Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303957T= , CM000675.2:g.48303957T= | GRCh38 |
| NC_000013.10:g.48878093T= , CM000675.1:g.48878093T= | GRCh37 |
| NC_000013.9:g.47776094T= | NCBI36 |
| NG_009009.1:g.5211T= , LRG_517:g.5211T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.45T= MANE Select | ENSP00000267163.4:p.Ala15= | |
| ENST00000646097.1:c.45T= | ENSP00000496556.1:p.Ala15= | |
| ENST00000650461.1:c.45T= | ENSP00000497193.1:p.Ala15= | |
| ENST00000267163.4:c.45T= | ENSP00000267163.4:p.Ala15= | |
| ENST00000467505.5:c.45T= | ENSP00000434702.1:p.Ala15= | |
| ENST00000525036.1:n.207T= | ||
| NM_000321.2:c.45T= , LRG_517t1:c.45T= | NP_000312.2:p.Ala15= | |
| NM_000321.3:c.45T= MANE Select | NP_000312.2:p.Ala15= |