Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38421080T>G , CM000685.2:g.38421080T>G | GRCh38 |
| NC_000023.10:g.38280333T>G , CM000685.1:g.38280333T>G | GRCh37 |
| NC_000023.9:g.38165277T>G | NCBI36 |
| NG_008471.1:g.73598T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.1063T>G MANE Select | NP_000522.3:p.Ter355Gly |
| ENST00000039007.5:c.1063T>G MANE Select | ENSP00000039007.4:p.Ter355Gly |
| NM_000531.5:c.1063T>G | NP_000522.3:p.Ter355Gly |
| ENST00000039007.4:c.1063T>G | ENSP00000039007.4:p.Ter355Gly |
| ENST00000465127.1:c.172-245041T>G | ENSP00000417050.1:n.172-245041T>G |