Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1442945G>T , CM000667.2:g.1442945G>T | GRCh38 |
| NC_000005.9:g.1443060G>T , CM000667.1:g.1443060G>T | GRCh37 |
| NC_000005.8:g.1496060G>T | NCBI36 |
| NG_015885.1:g.7484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.253C>A MANE Select | ENSP00000270349.9:p.Arg85= | |
| ENST00000270349.11:c.253C>A | ENSP00000270349.9:p.Arg85= | |
| NM_001044.4:c.253C>A | NP_001035.1:p.Arg85= | |
| NM_001044.5:c.253C>A MANE Select | NP_001035.1:p.Arg85= |