Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753304G>C , CM000663.2:g.119753304G>C | GRCh38 |
| NC_000001.10:g.120295927G>C , CM000663.1:g.120295927G>C | GRCh37 |
| NC_000001.9:g.120097450G>C | NCBI36 |
| NG_013348.1:g.20629C>G , LRG_447:g.20629C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005518.4:c.1270C>G MANE Select | NP_005509.1:p.Arg424Gly |
| ENST00000369406.8:c.1270C>G MANE Select | ENSP00000358414.3:p.Arg424Gly |
| NM_001166107.1:c.1144C>G , LRG_447t2:c.1144C>G | NP_001159579.1:p.Arg382Gly |
| NM_005518.3:c.1270C>G , LRG_447t1:c.1270C>G | NP_005509.1:p.Arg424Gly |
| ENST00000369406.7:c.1270C>G | ENSP00000358414.3:p.Arg424Gly |
| ENST00000544913.2:c.1144C>G | ENSP00000439495.2:p.Arg382Gly |
| XM_011541313.1:c.1105C>G | XP_011539615.1:p.Arg369Gly |
| XM_011541313.2:c.1105C>G | XP_011539615.1:p.Arg369Gly |