Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.34759475C>T , CM000681.2:g.34759475C>T | GRCh38 |
| NC_000019.9:g.35250380C>T , CM000681.1:g.35250380C>T | GRCh37 |
| NC_000019.8:g.39942220C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001007248.3:c.1326G>A MANE Select | NP_001007249.1:p.Met442Ile |
| ENST00000329285.13:c.1326G>A MANE Select | ENSP00000333802.6:p.Met442Ile |
| NM_001007248.2:c.1326G>A | NP_001007249.1:p.Met442Ile |
| ENST00000329285.12:c.1326G>A | ENSP00000333802.6:p.Met442Ile |
| ENST00000673678.1:c.*1326G>A | ENSP00000501024.1:n.*1326G>A |
| XM_017026369.1:c.1215G>A | XP_016881858.1:p.Met405Ile |