Linked Data
ClinVar Variation Id:
709668
ClinVar RCV Id:
RCV000881123
dbSNP Id:
rs35658317
ExAC:
3:132213932 G / A
gnomAD v2:
3-132213932-G-A
gnomAD v3:
3-132495088-G-A
gnomAD v4:
3-132495088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132495088G>A , CM000665.2:g.132495088G>A | GRCh38 |
| NC_000003.11:g.132213932G>A , CM000665.1:g.132213932G>A | GRCh37 |
| NC_000003.10:g.133696622G>A | NCBI36 |
| NG_051045.1:g.82562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.3942G>A MANE Select | ENSP00000260818.6:p.Pro1314= | |
| ENST00000650455.1:c.*2216G>A | ENSP00000496825.1:n.*2216G>A | |
| ENST00000260818.10:c.3942G>A | ENSP00000260818.6:p.Pro1314= | |
| NM_015268.3:c.3942G>A | NP_056083.3:p.Pro1314= | |
| XM_005247245.3:c.3957G>A | XP_005247302.1:p.Pro1319= | |
| NM_001329126.1:c.3957G>A | NP_001316055.1:p.Pro1319= | |
| XM_017006036.1:c.1911G>A | XP_016861525.1:p.Pro637= | |
| NM_015268.4:c.3942G>A MANE Select | NP_056083.3:p.Pro1314= | |
| NM_001329126.2:c.3957G>A | NP_001316055.1:p.Pro1319= |