Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459781A>G , CM000675.2:g.48459781A>G | GRCh38 |
| NC_000013.10:g.49033917A>G , CM000675.1:g.49033917A>G | GRCh37 |
| NC_000013.9:g.47931918A>G | NCBI36 |
| NG_009009.1:g.161035A>G , LRG_517:g.161035A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2054A>G MANE Select | ENSP00000267163.4:p.Gln685Arg | |
| ENST00000643064.1:c.194+78338A>G | ||
| ENST00000650461.1:c.2054A>G | ENSP00000497193.1:p.Gln685Arg | |
| ENST00000267163.4:c.2054A>G | ENSP00000267163.4:p.Gln685Arg | |
| NM_000321.2:c.2054A>G , LRG_517t1:c.2054A>G | NP_000312.2:p.Gln685Arg | |
| XM_011535171.1:c.1793A>G | XP_011533473.1:p.Gln598Arg | |
| XM_011535171.2:c.1793A>G | XP_011533473.1:p.Gln598Arg | |
| NM_000321.3:c.2054A>G MANE Select | NP_000312.2:p.Gln685Arg |