Links from Protein
Items: 1 to 20 of 264
1.
rs1489400006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:87390867
(GRCh38)
4:88312019
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87390866:T:C
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1487898175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:87374756
(GRCh38)
4:88295908
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87374755:A:G
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000047/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1486346088 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAC>-
[Show Flanks]
- Chromosome:
- 4:87340576
(GRCh38)
4:88261728
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87340573:ACCAC:AC
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1476396214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:87357326
(GRCh38)
4:88278478
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87357325:C:T
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1468756798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:87391059
(GRCh38)
4:88312211
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87391058:A:T
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1467510774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:87357307
(GRCh38)
4:88278459
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87357306:T:A
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1464373559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:87372793
(GRCh38)
4:88293945
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87372792:G:A
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1463552775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:87391042
(GRCh38)
4:88312194
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87391041:A:G
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1462284970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:87382314
(GRCh38)
4:88303466
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87382313:C:A,NC_000004.12:87382313:C:T
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000094/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000004.12:g.87382314C>A, NC_000004.12:g.87382314C>T, NC_000004.11:g.88303466C>A, NC_000004.11:g.88303466C>T, NM_016245.5:c.259G>T, NM_016245.5:c.259G>A, NM_016245.4:c.259G>T, NM_016245.4:c.259G>A, NM_016245.3:c.259G>T, NM_016245.3:c.259G>A, XM_011532021.2:c.259G>T, XM_011532021.2:c.259G>A, XM_011532021.1:c.259G>T, XM_011532021.1:c.259G>A, NP_057329.3:p.Val87Phe, NP_057329.3:p.Val87Ile, XP_011530323.1:p.Val87Phe, XP_011530323.1:p.Val87Ile
11.
rs1458682868 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 4:87372812
(GRCh38)
4:88293964
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87372811:T:
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1456055148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:87382289
(GRCh38)
4:88303441
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87382288:C:G
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1454786939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:87337366
(GRCh38)
4:88258518
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87337365:C:T
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1453191900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:87340513
(GRCh38)
4:88261665
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87340512:T:A,NC_000004.12:87340512:T:C
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000004.12:g.87340513T>A, NC_000004.12:g.87340513T>C, NC_000004.11:g.88261665T>A, NC_000004.11:g.88261665T>C, NM_016245.5:c.789A>T, NM_016245.5:c.789A>G, NM_016245.4:c.789A>T, NM_016245.4:c.789A>G, NM_016245.3:c.789A>T, NM_016245.3:c.789A>G, NP_057329.3:p.Ile263Met
15.
rs1449234733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:87357325
(GRCh38)
4:88278477
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87357324:A:G
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1448933170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:87340581
(GRCh38)
4:88261733
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87340580:CC:C
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1446495746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:87374778
(GRCh38)
4:88295930
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87374777:A:G
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
18.
rs1439643805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:87340590
(GRCh38)
4:88261742
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87340589:C:G
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1434743137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:87372715
(GRCh38)
4:88293867
(GRCh37)
- Canonical SPDI:
- NC_000004.12:87372714:G:A,NC_000004.12:87372714:G:C
- Gene:
- HSD17B11 (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
- HGVS:
NC_000004.12:g.87372715G>A, NC_000004.12:g.87372715G>C, NC_000004.11:g.88293867G>A, NC_000004.11:g.88293867G>C, NM_016245.5:c.551C>T, NM_016245.5:c.551C>G, NM_016245.4:c.551C>T, NM_016245.4:c.551C>G, NM_016245.3:c.551C>T, NM_016245.3:c.551C>G, NP_057329.3:p.Ala184Val, NP_057329.3:p.Ala184Gly