Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33667921G>A , CM000668.2:g.33667921G>A | GRCh38 |
| NC_000006.11:g.33635698G>A , CM000668.1:g.33635698G>A | GRCh37 |
| NC_000006.10:g.33743676G>A | NCBI36 |
| NG_027729.1:g.51543G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002224.4:c.1843G>A MANE Select | NP_002215.2:p.Val615Met |
| ENST00000605930.3:c.1843G>A MANE Select | ENSP00000475177.1:p.Val615Met |
| NM_002224.3:c.1843G>A | NP_002215.2:p.Val615Met |
| ENST00000374316.9:c.1843G>A | ENSP00000363435.4:p.Val615Met |
| ENST00000605930.2:c.1843G>A | ENSP00000475177.1:p.Val615Met |
| XM_011514576.1:c.1912G>A | XP_011512878.1:p.Val638Met |
| XM_011514577.1:c.1660G>A | XP_011512879.1:p.Val554Met |
| XM_011514577.3:c.1660G>A | XP_011512879.1:p.Val554Met |
| XM_017010832.1:c.1843G>A | XP_016866321.1:p.Val615Met |