Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52023971C>T , CM000666.2:g.52023971C>T | GRCh38 |
| NC_000004.11:g.52890137C>T , CM000666.1:g.52890137C>T | GRCh37 |
| NC_000004.10:g.52584894C>T | NCBI36 |
| NG_008891.1:g.19349G>A , LRG_204:g.19349G>A | |
| NG_053164.1:g.1341G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.943G>A MANE Select | NP_000223.1:p.Gly315Arg |
| ENST00000381431.10:c.943G>A MANE Select | ENSP00000370839.6:p.Gly315Arg |
| NM_000232.4:c.943G>A , LRG_204t1:c.943G>A | NP_000223.1:p.Gly315Arg |
| ENST00000381431.9:c.943G>A | ENSP00000370839.5:p.Gly315Arg |
| XM_006714049.2:c.646G>A | XP_006714112.1:p.Gly216Arg |
| XM_011534403.1:c.733G>A | XP_011532705.1:p.Gly245Arg |
| XM_011534404.1:c.646G>A | XP_011532706.1:p.Gly216Arg |