Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128257948T>C , CM000667.2:g.128257948T>C | GRCh38 |
| NC_000005.9:g.127593640T>C , CM000667.1:g.127593640T>C | GRCh37 |
| NC_000005.8:g.127621539T>C | NCBI36 |
| NG_008750.1:g.285096A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.*1507A>G MANE Select | NP_001990.2:n.*1507A>G |
| ENST00000262464.9:c.*1507A>G MANE Select | ENSP00000262464.4:n.*1507A>G |
| NM_001999.3:c.*1507A>G | NP_001990.2:n.*1507A>G |
| ENST00000262464.8:c.*1507A>G | ENSP00000262464.4:n.*1507A>G |