Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367360C>A , CM000685.2:g.38367360C>A | GRCh38 |
| NC_000023.10:g.38226613C>A , CM000685.1:g.38226613C>A | GRCh37 |
| NC_000023.9:g.38111557C>A | NCBI36 |
| NG_008471.1:g.19878C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.147C>A MANE Select | ENSP00000039007.4:p.Thr49= | |
| ENST00000643344.1:c.147C>A | ENSP00000496606.1:p.Thr49= | |
| ENST00000039007.4:c.147C>A | ENSP00000039007.4:p.Thr49= | |
| ENST00000465127.1:c.172-298761C>A | ENSP00000417050.1:n.172-298761C>A | |
| ENST00000488812.1:n.239C>A | ||
| NM_000531.5:c.147C>A | NP_000522.3:p.Thr49= | |
| XM_017029556.1:c.147C>A | XP_016885045.1:p.Thr49= | |
| NM_000531.6:c.147C>A MANE Select | NP_000522.3:p.Thr49= |