Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32307723G= , CM000669.2:g.32307723G= | GRCh38 |
| NC_000007.13:g.32347335G= , CM000669.1:g.32347335G= | GRCh37 |
| NC_000007.12:g.32313860G= | NCBI36 |
| NG_051183.1:g.125502C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.311-98184C= | ENSP00000499831.1:n.311-98184C= | |
| NM_001322059.1:c.311-98184C= | NP_001308988.1:n.311-98184C= | |
| NM_001322059.2:c.311-98184C= | NP_001308988.1:n.311-98184C= |