Linked Data
ClinVar Variation Id:
1524569
ClinVar RCV Id:
RCV002031815
dbSNP Id:
rs761395988
ExAC:
6:42932102 G / A
gnomAD v2:
6-42932102-G-A
gnomAD v3:
6-42964364-G-A
gnomAD v4:
6-42964364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964364G>A , CM000668.2:g.42964364G>A | GRCh38 |
| NC_000006.11:g.42932102G>A , CM000668.1:g.42932102G>A | GRCh37 |
| NC_000006.10:g.43040080G>A | NCBI36 |
| NG_008370.1:g.19880C>T | |
| NG_008396.1:g.8603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2914C>T MANE Select | ENSP00000303511.8:p.Arg972Cys | |
| ENST00000244546.4:c.2667C>T | ENSP00000244546.4:n.2667C>T | |
| ENST00000304611.12:c.2914C>T | ENSP00000303511.8:p.Arg972Cys | |
| NM_000287.3:c.2914C>T | NP_000278.3:p.Arg972Cys | |
| NM_001316313.1:c.2650C>T | NP_001303242.1:p.Arg884Cys | |
| NR_133009.1:n.2760C>T | ||
| XM_011514661.1:c.2830C>T | XP_011512963.1:p.Arg944Cys | |
| XM_011514661.2:c.2830C>T | XP_011512963.1:p.Arg944Cys | |
| XR_001743466.2:n.3876C>T | ||
| NM_000287.4:c.2914C>T MANE Select | NP_000278.3:p.Arg972Cys | |
| NM_001316313.2:c.2650C>T | NP_001303242.1:p.Arg884Cys | |
| NR_133009.2:n.2698C>T |