SNP Links for Protein (Select 25168263) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:134174781 (GRCh38)
6:134495919 (GRCh37)
Canonical SPDI:: NC_000006.12:134174780:C:A
Gene:: SGK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.134174781C>A, NC_000006.11:g.134495919C>A, NM_005627.4:c.27G>T, NM_005627.3:c.27G>T, NM_001291995.2:c.27G>T, NM_001291995.1:c.27G>T, NP_005618.2:p.Lys9Asn, NP_001278924.1:p.Lys9Asn

Select item 145567875917.

rs1455678759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:134174776 (GRCh38)
6:134495914 (GRCh37)
Canonical SPDI:: NC_000006.12:134174775:G:A
Gene:: SGK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.134174776G>A, NC_000006.11:g.134495914G>A, NM_005627.4:c.32C>T, NM_005627.3:c.32C>T, NM_001291995.2:c.32C>T, NM_001291995.1:c.32C>T, NP_005618.2:p.Thr11Ile, NP_001278924.1:p.Thr11Ile

Select item 145420980018.

rs1454209800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:134171028 (GRCh38)
6:134492166 (GRCh37)
Canonical SPDI:: NC_000006.12:134171027:C:T
Gene:: SGK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134171028C>T, NC_000006.11:g.134492166C>T, NM_005627.4:c.1033G>A, NM_005627.3:c.1033G>A, NM_001143676.3:c.1318G>A, NM_001143676.2:c.1318G>A, NM_001143676.1:c.1318G>A, NM_001143677.2:c.1117G>A, NM_001143677.1:c.1117G>A, NM_001143678.2:c.1075G>A, NM_001143678.1:c.1075G>A, NM_001291995.2:c.901G>A, NM_001291995.1:c.901G>A, NP_005618.2:p.Asp345Asn, NP_001137148.1:p.Asp440Asn, NP_001137149.1:p.Asp373Asn, NP_001137150.1:p.Asp359Asn, NP_001278924.1:p.Asp301Asn

Select item 144978546119.

rs1449785461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:134174565 (GRCh38)
6:134495703 (GRCh37)
Canonical SPDI:: NC_000006.12:134174564:A:G
Gene:: SGK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.134174565A>G, NC_000006.11:g.134495703A>G, NM_005627.4:c.98T>C, NM_005627.3:c.98T>C, NM_001143676.3:c.383T>C, NM_001143676.2:c.383T>C, NM_001143676.1:c.383T>C, NM_001143677.2:c.182T>C, NM_001143677.1:c.182T>C, NM_001143678.2:c.140T>C, NM_001143678.1:c.140T>C, NM_001291995.2:c.98T>C, NM_001291995.1:c.98T>C, NP_005618.2:p.Met33Thr, NP_001137148.1:p.Met128Thr, NP_001137149.1:p.Met61Thr, NP_001137150.1:p.Met47Thr, NP_001278924.1:p.Met33Thr

Select item 144590241920.

rs1445902419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:134170377 (GRCh38)
6:134491515 (GRCh37)
Canonical SPDI:: NC_000006.12:134170376:T:C
Gene:: SGK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.134170377T>C, NC_000006.11:g.134491515T>C, NM_005627.4:c.1187A>G, NM_005627.3:c.1187A>G, NM_001143676.3:c.1472A>G, NM_001143676.2:c.1472A>G, NM_001143676.1:c.1472A>G, NM_001143677.2:c.1271A>G, NM_001143677.1:c.1271A>G, NM_001143678.2:c.1229A>G, NM_001143678.1:c.1229A>G, NM_001291995.2:c.1055A>G, NM_001291995.1:c.1055A>G, NP_005618.2:p.Asn396Ser, NP_001137148.1:p.Asn491Ser, NP_001137149.1:p.Asn424Ser, NP_001137150.1:p.Asn410Ser, NP_001278924.1:p.Asn352Ser

dbSNP