Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1443613T>C , CM000667.2:g.1443613T>C | GRCh38 |
| NC_000005.9:g.1443728T>C , CM000667.1:g.1443728T>C | GRCh37 |
| NC_000005.8:g.1496728T>C | NCBI36 |
| NG_015885.1:g.6816A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.-45-371A>G MANE Select | NP_001035.1:n.-45-371A>G |
| ENST00000270349.12:c.-45-371A>G MANE Select | ENSP00000270349.9:n.-45-371A>G |
| NM_001044.4:c.-45-371A>G | NP_001035.1:n.-45-371A>G |
| ENST00000270349.11:c.-45-371A>G | ENSP00000270349.9:n.-45-371A>G |