Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905674G>C , CM000671.2:g.26905674G>C | GRCh38 |
| NC_000009.11:g.26905672G>C , CM000671.1:g.26905672G>C | GRCh37 |
| NC_000009.10:g.26895672G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.2225C>G MANE Select | ENSP00000380460.3:p.Thr742Ser | |
| ENST00000397292.7:c.2225C>G | ENSP00000380460.3:p.Thr742Ser | |
| NM_001031689.2:c.2225C>G | NP_001026859.1:p.Thr742Ser | |
| XM_011518071.1:c.2156C>G | XP_011516373.1:p.Thr719Ser | |
| NM_001321546.1:c.2156C>G | NP_001308475.1:p.Thr719Ser | |
| XR_001746420.2:n.2530C>G | ||
| NM_001031689.3:c.2225C>G MANE Select | NP_001026859.1:p.Thr742Ser | |
| NM_001321546.2:c.2156C>G | NP_001308475.1:p.Thr719Ser |