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