Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48443698G>C , CM000681.2:g.48443698G>C | GRCh38 |
| NC_000019.9:g.48946955G>C , CM000681.1:g.48946955G>C | GRCh37 |
| NC_000019.8:g.53638767G>C | NCBI36 |
| NG_046925.1:g.2926G>C | |
| NG_052829.1:g.53824G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.3772G>C MANE Select | ENSP00000263269.2:p.Gly1258Arg | |
| ENST00000263269.3:c.3772G>C | ENSP00000263269.2:p.Gly1258Arg | |
| NM_000836.2:c.3772G>C | NP_000827.2:p.Gly1258Arg | |
| XM_011526872.1:c.3772G>C | XP_011525174.1:p.Gly1258Arg | |
| NM_000836.4:c.3772G>C MANE Select | NP_000827.2:p.Gly1258Arg |