Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48367517C>G , CM000675.2:g.48367517C>G | GRCh38 |
| NC_000013.10:g.48941653C>G , CM000675.1:g.48941653C>G | GRCh37 |
| NC_000013.9:g.47839654C>G | NCBI36 |
| NG_009009.1:g.68771C>G , LRG_517:g.68771C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.963C>G MANE Select | NP_000312.2:p.Tyr321Ter |
| ENST00000267163.6:c.963C>G MANE Select | ENSP00000267163.4:p.Tyr321Ter |
| NM_000321.2:c.963C>G , LRG_517t1:c.963C>G | NP_000312.2:p.Tyr321Ter |
| ENST00000267163.4:c.963C>G | ENSP00000267163.4:p.Tyr321Ter |
| ENST00000650461.1:c.963C>G | ENSP00000497193.1:p.Tyr321Ter |
| XM_011535171.1:c.702C>G | XP_011533473.1:p.Tyr234Ter |
| XM_011535171.2:c.702C>G | XP_011533473.1:p.Tyr234Ter |
| XR_002957522.1:n.122-2541G>C |