Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379623C>G , CM000675.2:g.48379623C>G | GRCh38 |
| NC_000013.10:g.48953759C>G , CM000675.1:g.48953759C>G | GRCh37 |
| NC_000013.9:g.47851760C>G | NCBI36 |
| NG_009009.1:g.80877C>G , LRG_517:g.80877C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1362C>G MANE Select | NP_000312.2:p.Tyr454Ter |
| ENST00000267163.6:c.1362C>G MANE Select | ENSP00000267163.4:p.Tyr454Ter |
| NM_000321.2:c.1362C>G , LRG_517t1:c.1362C>G | NP_000312.2:p.Tyr454Ter |
| ENST00000267163.4:c.1362C>G | ENSP00000267163.4:p.Tyr454Ter |
| ENST00000650461.1:c.1362C>G | ENSP00000497193.1:p.Tyr454Ter |
| XM_011535171.1:c.1101C>G | XP_011533473.1:p.Tyr367Ter |
| XM_011535171.2:c.1101C>G | XP_011533473.1:p.Tyr367Ter |
| XR_002957522.1:n.40+212G>C |