Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48377034G>A , CM000675.2:g.48377034G>A | GRCh38 |
| NC_000013.10:g.48951170G>A , CM000675.1:g.48951170G>A | GRCh37 |
| NC_000013.9:g.47849171G>A | NCBI36 |
| NG_009009.1:g.78288G>A , LRG_517:g.78288G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1332G>A MANE Select | NP_000312.2:p.Gln444= |
| ENST00000267163.6:c.1332G>A MANE Select | ENSP00000267163.4:p.Gln444= |
| NM_000321.2:c.1332G>A , LRG_517t1:c.1332G>A | NP_000312.2:p.Gln444= |
| ENST00000267163.4:c.1332G>A | ENSP00000267163.4:p.Gln444= |
| ENST00000650461.1:c.1332G>A | ENSP00000497193.1:p.Gln444= |
| XM_011535171.1:c.1071G>A | XP_011533473.1:p.Gln357= |
| XM_011535171.2:c.1071G>A | XP_011533473.1:p.Gln357= |
| XR_002957522.1:n.41-2794C>T |