Linked Data
ClinVar Variation Id:
2188198
ClinVar RCV Id:
RCV002616351
dbSNP Id:
rs1253002851
gnomAD v2:
3-52437493-G-A
gnomAD v3:
3-52403477-G-A
gnomAD v4:
3-52403477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403477G>A , CM000665.2:g.52403477G>A | GRCh38 |
| NC_000003.11:g.52437493G>A , CM000665.1:g.52437493G>A | GRCh37 |
| NC_000003.10:g.52412533G>A | NCBI36 |
| NG_031859.1:g.11517C>T , LRG_529:g.11517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1668C>T MANE Select | ENSP00000417132.1:p.Val556= | |
| ENST00000296288.9:c.1614C>T | ENSP00000296288.5:p.Val538= | |
| ENST00000460680.5:c.1668C>T | ENSP00000417132.1:p.Val556= | |
| ENST00000466093.1:n.75C>T | ||
| ENST00000469613.5:c.119+324C>T | ||
| ENST00000478368.1:c.171C>T | ENSP00000420647.1:p.Val57= | |
| NM_004656.3:c.1668C>T | NP_004647.1:p.Val556= | |
| XM_011534149.1:c.1668C>T | XP_011532451.1:p.Val556= | |
| XM_011534150.1:c.1668C>T | XP_011532452.1:p.Val556= | |
| XM_011534151.1:c.1614C>T | XP_011532453.1:p.Val538= | |
| XM_011534152.1:c.1668C>T | XP_011532454.1:p.Val556= | |
| XM_011534149.3:c.1668C>T | XP_011532451.1:p.Val556= | |
| XM_011534150.3:c.1668C>T | XP_011532452.1:p.Val556= | |
| XM_011534151.3:c.1614C>T | XP_011532453.1:p.Val538= | |
| XM_011534152.2:c.1668C>T | XP_011532454.1:p.Val556= | |
| XM_017007303.2:c.1614C>T | XP_016862792.1:p.Val538= | |
| NM_004656.4:c.1668C>T MANE Select | NP_004647.1:p.Val556= |