Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85286951A>T , CM000674.2:g.85286951A>T | GRCh38 |
| NC_000012.11:g.85680729A>T , CM000674.1:g.85680729A>T | GRCh37 |
| NC_000012.10:g.84204860A>T | NCBI36 |
| NG_023202.1:g.11694A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.630A>T MANE Select | ENSP00000315417.3:p.Ser210= | |
| ENST00000316824.3:c.630A>T | ENSP00000315417.3:p.Ser210= | |
| NM_006982.2:c.630A>T | NP_008913.2:p.Ser210= | |
| XM_005269165.3:c.630A>T | XP_005269222.1:p.Ser210= | |
| XM_011538782.1:c.345A>T | XP_011537084.1:p.Ser115= | |
| XM_011538783.1:c.345A>T | XP_011537085.1:p.Ser115= | |
| XM_011538782.2:c.345A>T | XP_011537084.1:p.Ser115= | |
| NM_006982.3:c.630A>T MANE Select | NP_008913.2:p.Ser210= |