Linked Data
ClinVar Variation Id:
2010737
ClinVar RCV Id:
RCV002834216
dbSNP Id:
rs757559034
ExAC:
3:52437196 C / T
gnomAD v2:
3-52437196-C-T
gnomAD v4:
3-52403180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403180C>T , CM000665.2:g.52403180C>T | GRCh38 |
| NC_000003.11:g.52437196C>T , CM000665.1:g.52437196C>T | GRCh37 |
| NC_000003.10:g.52412236C>T | NCBI36 |
| NG_031859.1:g.11814G>A , LRG_529:g.11814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1848G>A MANE Select | ENSP00000417132.1:p.Val616= | |
| ENST00000296288.9:c.1794G>A | ENSP00000296288.5:p.Val598= | |
| ENST00000460680.5:c.1848G>A | ENSP00000417132.1:p.Val616= | |
| ENST00000466093.1:n.255G>A | ||
| ENST00000469613.5:c.120-339G>A | ||
| ENST00000478368.1:c.351G>A | ENSP00000420647.1:p.Val117= | |
| NM_004656.3:c.1848G>A | NP_004647.1:p.Val616= | |
| XM_011534149.1:c.1848G>A | XP_011532451.1:p.Val616= | |
| XM_011534150.1:c.1845+3G>A | XP_011532452.1:n.1845+3G>A | |
| XM_011534151.1:c.1794G>A | XP_011532453.1:p.Val598= | |
| XM_011534152.1:c.1845+3G>A | XP_011532454.1:n.1845+3G>A | |
| XM_011534149.3:c.1848G>A | XP_011532451.1:p.Val616= | |
| XM_011534150.3:c.1845+3G>A | XP_011532452.1:n.1845+3G>A | |
| XM_011534151.3:c.1794G>A | XP_011532453.1:p.Val598= | |
| XM_011534152.2:c.1845+3G>A | XP_011532454.1:n.1845+3G>A | |
| XM_017007303.2:c.1794G>A | XP_016862792.1:p.Val598= | |
| NM_004656.4:c.1848G>A MANE Select | NP_004647.1:p.Val616= |