Linked Data
dbSNP Id:
rs762696971
ExAC:
15:31362423 G / A
gnomAD v2:
15-31362423-G-A
gnomAD v4:
15-31070220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31070220G>A , CM000677.2:g.31070220G>A | GRCh38 |
| NC_000015.9:g.31362423G>A , CM000677.1:g.31362423G>A | GRCh37 |
| NC_000015.8:g.29149715G>A | NCBI36 |
| NG_016453.1:g.36502C>T | |
| NG_016453.2:g.96054C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711434.1:c.24C>T | ENSP00000518752.1:p.Cys8= | |
| ENST00000397795.7:c.24C>T | ENSP00000380897.2:p.Cys8= | |
| ENST00000558445.6:c.141C>T | ENSP00000452946.2:p.Cys47= | |
| ENST00000559177.6:c.141C>T | ENSP00000453477.2:p.Cys47= | |
| ENST00000559179.2:c.24C>T | ENSP00000453851.1:p.Cys8= | |
| ENST00000256552.11:c.90C>T MANE Select | ENSP00000256552.7:p.Cys30= | |
| ENST00000256552.10:c.90C>T | ENSP00000256552.6:p.Cys30= | |
| ENST00000397795.6:c.24C>T | ENSP00000380897.2:p.Cys8= | |
| ENST00000542188.5:c.141C>T | ENSP00000437849.1:p.Cys47= | |
| ENST00000558445.5:c.24C>T | ENSP00000452946.1:p.Cys8= | |
| ENST00000559177.5:c.24C>T | ENSP00000453477.1:p.Cys8= | |
| ENST00000559179.1:c.24C>T | ENSP00000453851.1:p.Cys8= | |
| ENST00000560658.5:c.24C>T | ENSP00000454077.1:p.Cys8= | |
| NM_001252020.1:c.141C>T | NP_001238949.1:p.Cys47= | |
| NM_001252024.1:c.90C>T | NP_001238953.1:p.Cys30= | |
| NM_001252030.1:c.24C>T | NP_001238959.1:p.Cys8= | |
| NM_002420.5:c.24C>T | NP_002411.3:p.Cys8= | |
| NM_001252024.2:c.90C>T MANE Select | NP_001238953.1:p.Cys30= | |
| NM_001252030.2:c.24C>T | NP_001238959.1:p.Cys8= | |
| NM_002420.6:c.24C>T | NP_002411.3:p.Cys8= | |
| NM_001252020.2:c.141C>T | NP_001238949.1:p.Cys47= |