Links from Protein
Items: 1 to 20 of 564
1.
rs1489415673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41464429
(GRCh38)
17:39620681
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41464428:A:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/2
(GnomAD_exomes)
- HGVS:
2.
rs1488608743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41466129
(GRCh38)
17:39622381
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41466128:A:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1485529635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41466965
(GRCh38)
17:39623217
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41466964:T:C
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1485021884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41467153
(GRCh38)
17:39623405
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41467152:G:A
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00007/1
(TOMMO)
A=0.00055/1
(Korea1K)
- HGVS:
5.
rs1484906895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41467308
(GRCh38)
17:39623560
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41467307:A:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1483082550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41464202
(GRCh38)
17:39620454
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41464201:A:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1480672754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41467001
(GRCh38)
17:39623253
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41467000:T:C
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479175926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41467218
(GRCh38)
17:39623470
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41467217:G:A
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1478464551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:41465901
(GRCh38)
17:39622153
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41465900:G:T
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1477730781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41463028
(GRCh38)
17:39619280
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41463027:A:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1475514656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:41460185
(GRCh38)
17:39616437
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41460184:T:A
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1473129032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 17:41466176
(GRCh38)
17:39622428
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41466175:T:C,NC_000017.11:41466175:T:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000012/3
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.41466176T>C, NC_000017.11:g.41466176T>G, NC_000017.10:g.39622428T>C, NC_000017.10:g.39622428T>G, NG_012424.1:g.6211A>G, NG_012424.1:g.6211A>C, NM_002278.3:c.469A>G, NM_002278.3:c.469A>C, XR_934457.2:n.530A>G, XR_934457.2:n.530A>C, XR_934457.1:n.2396A>G, XR_934457.1:n.2396A>C, NP_002269.3:p.Ile157Val, NP_002269.3:p.Ile157Leu
14.
rs1472160283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:41464355
(GRCh38)
17:39620607
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41464354:T:G
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1470668523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41460192
(GRCh38)
17:39616444
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41460191:G:A
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1466500386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:41465841
(GRCh38)
17:39622093
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41465840:C:A
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1466286641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:41466918
(GRCh38)
17:39623170
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41466917:C:A
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1465683642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41464088
(GRCh38)
17:39620340
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41464087:T:C
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1464933705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41464352
(GRCh38)
17:39620604
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41464351:T:C
- Gene:
- KRT32 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(GnomAD_exomes)
- HGVS: