Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31810752C>G , CM000668.2:g.31810752C>G | GRCh38 |
| NC_000006.11:g.31778529C>G , CM000668.1:g.31778529C>G | GRCh37 |
| NC_000006.10:g.31886508C>G | NCBI36 |
| NG_011855.1:g.9307G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005527.4:c.1221G>C MANE Select | NP_005518.3:p.Thr407= |
| ENST00000375654.5:c.1221G>C MANE Select | ENSP00000364805.4:p.Thr407= |
| NM_005527.3:c.1221G>C | NP_005518.3:p.Thr407= |
| ENST00000375654.4:c.1221G>C | ENSP00000364805.4:p.Thr407= |
| XM_005249070.3:c.1413G>C | XP_005249127.1:p.Thr471= |
| XM_005249071.1:c.1221G>C | XP_005249128.1:p.Thr407= |
| XM_005249073.2:c.1221G>C | XP_005249130.1:p.Thr407= |
| XM_011514566.1:c.1221G>C | XP_011512868.1:p.Thr407= |