Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48453038G>C , CM000675.2:g.48453038G>C | GRCh38 |
| NC_000013.10:g.49027174G>C , CM000675.1:g.49027174G>C | GRCh37 |
| NC_000013.9:g.47925175G>C | NCBI36 |
| NG_009009.1:g.154292G>C , LRG_517:g.154292G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1741G>C MANE Select | NP_000312.2:p.Gly581Arg |
| ENST00000267163.6:c.1741G>C MANE Select | ENSP00000267163.4:p.Gly581Arg |
| NM_000321.2:c.1741G>C , LRG_517t1:c.1741G>C | NP_000312.2:p.Gly581Arg |
| ENST00000267163.4:c.1741G>C | ENSP00000267163.4:p.Gly581Arg |
| ENST00000480491.1:n.440G>C | |
| ENST00000643064.1:c.194+71595G>C | |
| ENST00000650461.1:c.1741G>C | ENSP00000497193.1:p.Gly581Arg |
| XM_011535171.1:c.1480G>C | XP_011533473.1:p.Gly494Arg |
| XM_011535171.2:c.1480G>C | XP_011533473.1:p.Gly494Arg |