Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408883C>A , CM000685.2:g.38408883C>A | GRCh38 |
| NC_000023.10:g.38268136C>A , CM000685.1:g.38268136C>A | GRCh37 |
| NC_000023.9:g.38153080C>A | NCBI36 |
| NG_008471.1:g.61401C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.725C>A MANE Select | NP_000522.3:p.Thr242Asn |
| ENST00000039007.5:c.725C>A MANE Select | ENSP00000039007.4:p.Thr242Asn |
| NM_000531.5:c.725C>A | NP_000522.3:p.Thr242Asn |
| ENST00000039007.4:c.725C>A | ENSP00000039007.4:p.Thr242Asn |
| ENST00000465127.1:c.172-257238C>A | ENSP00000417050.1:n.172-257238C>A |
| ENST00000643344.1:c.*475C>A | ENSP00000496606.1:n.*475C>A |
| XM_017029556.1:c.725C>A | XP_016885045.1:p.Thr242Asn |