Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48520764G>A , CM000677.2:g.48520764G>A | GRCh38 |
| NC_000015.9:g.48812961G>A , CM000677.1:g.48812961G>A | GRCh37 |
| NC_000015.8:g.46600253G>A | NCBI36 |
| NG_008805.2:g.130025C>T , LRG_778:g.130025C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1042C>T MANE Select | NP_000129.3:p.Gln348Ter |
| ENST00000316623.10:c.1042C>T MANE Select | ENSP00000325527.5:p.Gln348Ter |
| NM_000138.4:c.1042C>T , LRG_778t1:c.1042C>T | NP_000129.3:p.Gln348Ter |
| ENST00000316623.9:c.1042C>T | ENSP00000325527.5:p.Gln348Ter |
| ENST00000537463.6:c.636+16947C>T | ENSP00000440294.2:n.636+16947C>T |
| ENST00000559133.6:c.1042C>T | ENSP00000453958.2:p.Gln348Ter |
| ENST00000674301.2:c.1042C>T | ENSP00000501333.2:p.Gln348Ter |