Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459750G>T , CM000675.2:g.48459750G>T | GRCh38 |
| NC_000013.10:g.49033886G>T , CM000675.1:g.49033886G>T | GRCh37 |
| NC_000013.9:g.47931887G>T | NCBI36 |
| NG_009009.1:g.161004G>T , LRG_517:g.161004G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2023G>T MANE Select | NP_000312.2:p.Glu675Ter |
| ENST00000267163.6:c.2023G>T MANE Select | ENSP00000267163.4:p.Glu675Ter |
| NM_000321.2:c.2023G>T , LRG_517t1:c.2023G>T | NP_000312.2:p.Glu675Ter |
| ENST00000267163.4:c.2023G>T | ENSP00000267163.4:p.Glu675Ter |
| ENST00000643064.1:c.194+78307G>T | |
| ENST00000650461.1:c.2023G>T | ENSP00000497193.1:p.Glu675Ter |
| XM_011535171.1:c.1762G>T | XP_011533473.1:p.Glu588Ter |
| XM_011535171.2:c.1762G>T | XP_011533473.1:p.Glu588Ter |