Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33680375C>T , CM000668.2:g.33680375C>T | GRCh38 |
| NC_000006.11:g.33648152C>T , CM000668.1:g.33648152C>T | GRCh37 |
| NC_000006.10:g.33756130C>T | NCBI36 |
| NG_027729.1:g.63997C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002224.4:c.4271C>T MANE Select | NP_002215.2:p.Thr1424Met |
| ENST00000605930.3:c.4271C>T MANE Select | ENSP00000475177.1:p.Thr1424Met |
| NM_002224.3:c.4271C>T | NP_002215.2:p.Thr1424Met |
| ENST00000374316.9:c.4271C>T | ENSP00000363435.4:p.Thr1424Met |
| ENST00000605930.2:c.4271C>T | ENSP00000475177.1:p.Thr1424Met |
| XM_011514576.1:c.4340C>T | XP_011512878.1:p.Thr1447Met |
| XM_011514577.1:c.4088C>T | XP_011512879.1:p.Thr1363Met |
| XM_011514577.3:c.4088C>T | XP_011512879.1:p.Thr1363Met |