Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380062C>T , CM000675.2:g.48380062C>T | GRCh38 |
| NC_000013.10:g.48954198C>T , CM000675.1:g.48954198C>T | GRCh37 |
| NC_000013.9:g.47852199C>T | NCBI36 |
| NG_009009.1:g.81316C>T , LRG_517:g.81316C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1399C>T MANE Select | NP_000312.2:p.Arg467Ter |
| ENST00000267163.6:c.1399C>T MANE Select | ENSP00000267163.4:p.Arg467Ter |
| NM_000321.2:c.1399C>T , LRG_517t1:c.1399C>T | NP_000312.2:p.Arg467Ter |
| ENST00000267163.4:c.1399C>T | ENSP00000267163.4:p.Arg467Ter |
| ENST00000650461.1:c.1399C>T | ENSP00000497193.1:p.Arg467Ter |
| XM_011535171.1:c.1138C>T | XP_011533473.1:p.Arg380Ter |
| XM_011535171.2:c.1138C>T | XP_011533473.1:p.Arg380Ter |