dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1412530C>A , CM000667.2:g.1412530C>A | GRCh38 |
| NC_000005.9:g.1412645C>A , CM000667.1:g.1412645C>A | GRCh37 |
| NC_000005.8:g.1465645C>A | NCBI36 |
| NG_015885.1:g.37899G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1157-1175G>T MANE Select | ENSP00000270349.9:n.1157-1175G>T | |
| ENST00000270349.11:c.1157-1175G>T | ENSP00000270349.9:n.1157-1175G>T | |
| NM_001044.4:c.1157-1175G>T | NP_001035.1:n.1157-1175G>T | |
| NM_001044.5:c.1157-1175G>T MANE Select | NP_001035.1:n.1157-1175G>T |