Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301416G>C , CM000681.2:g.33301416G>C | GRCh38 |
| NC_000019.9:g.33792322G>C , CM000681.1:g.33792322G>C | GRCh37 |
| NC_000019.8:g.38484162G>C | NCBI36 |
| NG_012022.1:g.6109C>G , LRG_456:g.6109C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.999C>G MANE Select | ENSP00000427514.1:p.Arg333= | |
| ENST00000498907.2:c.999C>G | ENSP00000427514.1:p.Arg333= | |
| NM_001285829.1:c.642C>G | NP_001272758.1:p.Arg214= | |
| NM_001287424.1:c.1104C>G | NP_001274353.1:p.Arg368= | |
| NM_001287435.1:c.957C>G | NP_001274364.1:p.Arg319= | |
| NM_004364.4:c.999C>G | NP_004355.2:p.Arg333= | |
| NM_001287424.2:c.1104C>G | NP_001274353.1:p.Arg368= | |
| NM_004364.5:c.999C>G MANE Select | NP_004355.2:p.Arg333= | |
| NM_001285829.2:c.642C>G | NP_001272758.1:p.Arg214= | |
| NM_001287435.2:c.957C>G | NP_001274364.1:p.Arg319= |