Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348968A>T , CM000675.2:g.48348968A>T | GRCh38 |
| NC_000013.10:g.48923104A>T , CM000675.1:g.48923104A>T | GRCh37 |
| NC_000013.9:g.47821105A>T | NCBI36 |
| NG_009009.1:g.50222A>T , LRG_517:g.50222A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.552A>T MANE Select | NP_000312.2:p.Glu184Asp |
| ENST00000267163.6:c.552A>T MANE Select | ENSP00000267163.4:p.Glu184Asp |
| NM_000321.2:c.552A>T , LRG_517t1:c.552A>T | NP_000312.2:p.Glu184Asp |
| ENST00000267163.4:c.552A>T | ENSP00000267163.4:p.Glu184Asp |
| ENST00000467505.5:c.138-11049A>T | ENSP00000434702.1:n.138-11049A>T |
| ENST00000525036.1:n.714A>T | |
| ENST00000650461.1:c.552A>T | ENSP00000497193.1:p.Glu184Asp |
| XM_011535171.1:c.291A>T | XP_011533473.1:p.Glu97Asp |
| XM_011535171.2:c.291A>T | XP_011533473.1:p.Glu97Asp |