Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367359C>G , CM000685.2:g.38367359C>G | GRCh38 |
| NC_000023.10:g.38226612C>G , CM000685.1:g.38226612C>G | GRCh37 |
| NC_000023.9:g.38111556C>G | NCBI36 |
| NG_008471.1:g.19877C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.146C>G MANE Select | NP_000522.3:p.Thr49Ser |
| ENST00000039007.5:c.146C>G MANE Select | ENSP00000039007.4:p.Thr49Ser |
| NM_000531.5:c.146C>G | NP_000522.3:p.Thr49Ser |
| ENST00000039007.4:c.146C>G | ENSP00000039007.4:p.Thr49Ser |
| ENST00000465127.1:c.172-298762C>G | ENSP00000417050.1:n.172-298762C>G |
| ENST00000488812.1:n.238C>G | |
| ENST00000643344.1:c.146C>G | ENSP00000496606.1:p.Thr49Ser |
| XM_017029556.1:c.146C>G | XP_016885045.1:p.Thr49Ser |