Linked Data
ClinVar Variation Id:
438050
dbSNP Id:
rs1554286384
gnomAD v4:
7-23125152-T-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23125152T>C , CM000669.2:g.23125152T>C | GRCh38 |
| NC_000007.13:g.23164771T>C , CM000669.1:g.23164771T>C | GRCh37 |
| NC_000007.12:g.23131296T>C | NCBI36 |
| NG_016983.1:g.24419T>C | |
| NG_016983.2:g.24419T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.422T>C MANE Select | ENSP00000343273.4:p.Val141Ala | |
| ENST00000322275.9:c.422T>C | ENSP00000323270.5:p.Val141Ala | |
| ENST00000339077.9:c.422T>C | ENSP00000343273.4:p.Val141Ala | |
| ENST00000409689.5:c.278T>C | ENSP00000386263.1:p.Val93Ala | |
| ENST00000410047.1:c.356T>C | ENSP00000386999.1:p.Val119Ala | |
| ENST00000459661.5:n.556T>C | ||
| ENST00000477076.1:n.173T>C | ||
| ENST00000479288.5:n.390-15617T>C | ||
| ENST00000479700.1:n.441T>C | ||
| ENST00000491352.5:n.463T>C | ||
| ENST00000521082.5:c.*430T>C | ENSP00000430351.1:n.*430T>C | |
| NM_001031710.2:c.422T>C | NP_001026880.2:p.Val141Ala | |
| NM_001172428.1:c.422T>C | NP_001165899.1:p.Val141Ala | |
| NM_018846.4:c.278T>C | NP_061334.4:p.Val93Ala | |
| NR_033328.1:n.846T>C | ||
| NR_033329.1:n.846T>C | ||
| XM_006715753.1:c.422T>C | XP_006715816.1:p.Val141Ala | |
| XM_006715754.1:c.356T>C | XP_006715817.1:p.Val119Ala | |
| XM_006715755.1:c.356T>C | XP_006715818.1:p.Val119Ala | |
| XM_006715756.1:c.278T>C | XP_006715819.1:p.Val93Ala | |
| XM_006715757.2:c.422T>C | XP_006715820.1:p.Val141Ala | |
| XM_006715753.3:c.422T>C | XP_006715816.1:p.Val141Ala | |
| XM_006715754.3:c.356T>C | XP_006715817.1:p.Val119Ala | |
| XM_006715755.3:c.356T>C | XP_006715818.1:p.Val119Ala | |
| XM_006715756.3:c.278T>C | XP_006715819.1:p.Val93Ala | |
| XM_006715757.4:c.422T>C | XP_006715820.1:p.Val141Ala | |
| XM_017012439.2:c.356T>C | XP_016867928.1:p.Val119Ala | |
| XM_017012440.2:c.422T>C | XP_016867929.1:p.Val141Ala | |
| XM_017012441.2:c.356T>C | XP_016867930.1:p.Val119Ala | |
| NM_001031710.3:c.422T>C MANE Select | NP_001026880.2:p.Val141Ala | |
| NM_018846.5:c.278T>C | NP_061334.4:p.Val93Ala | |
| NR_033328.2:n.795T>C | ||
| NM_001172428.2:c.422T>C | NP_001165899.1:p.Val141Ala | |
| NR_033329.2:n.795T>C |