Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71781472G>C , CM000665.2:g.71781472G>C | GRCh38 |
| NC_000003.11:g.71830623G>C , CM000665.1:g.71830623G>C | GRCh37 |
| NC_000003.10:g.71913313G>C | NCBI36 |
| NG_008275.1:g.8735C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295619.4:c.217C>G MANE Select | ENSP00000295619.3:p.Arg73Gly | |
| ENST00000295619.3:c.217C>G | ENSP00000295619.3:p.Arg73Gly | |
| ENST00000353065.7:c.217C>G | ENSP00000295618.3:p.Arg73Gly | |
| NM_001126128.1:c.217C>G | NP_001119600.1:p.Arg73Gly | |
| NM_021935.3:c.217C>G | NP_068754.1:p.Arg73Gly | |
| XM_017006974.1:c.157C>G | XP_016862463.1:p.Arg53Gly | |
| NM_001126128.2:c.217C>G MANE Select | NP_001119600.1:p.Arg73Gly | |
| NM_021935.4:c.217C>G | NP_068754.1:p.Arg73Gly |