gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18596918G>T , CM000681.2:g.18596918G>T | GRCh38 |
| NC_000019.9:g.18707728G>T , CM000681.1:g.18707728G>T | GRCh37 |
| NC_000019.8:g.18568728G>T | NCBI36 |
| NG_013370.1:g.14933C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.829C>A | ENSP00000506849.1:p.Arg277= | |
| ENST00000392386.8:c.829C>A MANE Select | ENSP00000376188.2:p.Arg277= | |
| ENST00000392386.7:c.829C>A | ENSP00000376188.2:p.Arg277= | |
| ENST00000597131.1:c.294C>A | ||
| NM_004750.4:c.829C>A | NP_004741.1:p.Arg277= | |
| XM_011528422.1:c.763C>A | XP_011526724.1:p.Arg255= | |
| XM_011528423.1:c.829C>A | XP_011526725.1:p.Arg277= | |
| XM_011528424.1:c.763C>A | XP_011526726.1:p.Arg255= | |
| XM_011528422.2:c.763C>A | XP_011526724.1:p.Arg255= | |
| XM_011528423.2:c.829C>A | XP_011526725.1:p.Arg277= | |
| XM_011528424.3:c.763C>A | XP_011526726.1:p.Arg255= | |
| NM_004750.5:c.829C>A MANE Select | NP_004741.1:p.Arg277= |