Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138466715C>A , CM000667.2:g.138466715C>A | GRCh38 |
| NC_000005.9:g.137802404C>A , CM000667.1:g.137802404C>A | GRCh37 |
| NC_000005.8:g.137830303C>A | NCBI36 |
| NG_021374.1:g.6224C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001964.3:c.308-42C>A MANE Select | NP_001955.1:n.308-42C>A |
| ENST00000239938.5:c.308-42C>A MANE Select | ENSP00000239938.4:n.308-42C>A |
| NM_001964.2:c.308-42C>A | NP_001955.1:n.308-42C>A |
| ENST00000239938.4:c.308-42C>A | ENSP00000239938.4:n.308-42C>A |