Linked Data
ClinVar Variation Id:
748013
ClinVar RCV Id:
RCV000924778
dbSNP Id:
rs201142076
ExAC:
3:53276237 G / A
gnomAD v2:
3-53276237-G-A
gnomAD v3:
3-53242221-G-A
gnomAD v4:
3-53242221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53242221G>A , CM000665.2:g.53242221G>A | GRCh38 |
| NC_000003.11:g.53276237G>A , CM000665.1:g.53276237G>A | GRCh37 |
| NC_000003.10:g.53251277G>A | NCBI36 |
| NG_027815.1:g.18894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462138.6:c.129C>T MANE Select | ENSP00000417773.1:p.Ser43= | |
| ENST00000296289.10:c.-261C>T | ENSP00000296289.7:n.-261C>T | |
| ENST00000423516.5:c.129C>T | ENSP00000391481.1:p.Ser43= | |
| ENST00000423525.6:c.129C>T | ENSP00000405455.2:p.Ser43= | |
| ENST00000450814.6:c.129C>T | ENSP00000413503.2:p.Ser43= | |
| ENST00000462138.5:c.129C>T | ENSP00000417773.1:p.Ser43= | |
| ENST00000469678.1:c.129C>T | ENSP00000418340.1:p.Ser43= | |
| ENST00000472528.5:c.169C>T | ENSP00000417312.1:p.Arg57Cys | |
| ENST00000483706.1:n.239C>T | ||
| NM_001064.3:c.129C>T | NP_001055.1:p.Ser43= | |
| NM_001135055.2:c.129C>T | NP_001128527.1:p.Ser43= | |
| NM_001258028.1:c.129C>T | NP_001244957.1:p.Ser43= | |
| NR_047580.1:n.301C>T | ||
| XM_011534054.1:c.129C>T | XP_011532356.1:p.Ser43= | |
| XM_011534055.1:c.-495C>T | XP_011532357.1:n.-495C>T | |
| XM_011534055.2:c.-495C>T | XP_011532357.1:n.-495C>T | |
| NM_001064.4:c.129C>T MANE Select | NP_001055.1:p.Ser43= | |
| NM_001135055.3:c.129C>T | NP_001128527.1:p.Ser43= | |
| NM_001258028.2:c.129C>T | NP_001244957.1:p.Ser43= | |
| NR_047580.2:n.209C>T |