Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379606G>A , CM000675.2:g.48379606G>A | GRCh38 |
| NC_000013.10:g.48953742G>A , CM000675.1:g.48953742G>A | GRCh37 |
| NC_000013.9:g.47851743G>A | NCBI36 |
| NG_009009.1:g.80860G>A , LRG_517:g.80860G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1345G>A MANE Select | NP_000312.2:p.Gly449Arg |
| ENST00000267163.6:c.1345G>A MANE Select | ENSP00000267163.4:p.Gly449Arg |
| NM_000321.2:c.1345G>A , LRG_517t1:c.1345G>A | NP_000312.2:p.Gly449Arg |
| ENST00000267163.4:c.1345G>A | ENSP00000267163.4:p.Gly449Arg |
| ENST00000650461.1:c.1345G>A | ENSP00000497193.1:p.Gly449Arg |
| XM_011535171.1:c.1084G>A | XP_011533473.1:p.Gly362Arg |
| XM_011535171.2:c.1084G>A | XP_011533473.1:p.Gly362Arg |
| XR_002957522.1:n.40+229C>T |