Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75724426T>C , CM000663.2:g.75724426T>C | GRCh38 |
| NC_000001.10:g.76190111T>C , CM000663.1:g.76190111T>C | GRCh37 |
| NC_000001.9:g.75962699T>C | NCBI36 |
| NG_007045.2:g.5069T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000016.5:c.-362T>C | NP_000007.1:n.-362T>C |
| NM_001127328.2:c.-362T>C | NP_001120800.1:n.-362T>C |
| NM_001286042.1:c.-382T>C | NP_001272971.1:n.-382T>C |
| NM_001286043.1:c.-362T>C | NP_001272972.1:n.-362T>C |
| NM_001286044.1:c.-659T>C | NP_001272973.1:n.-659T>C |
| ENST00000370841.8:c.-362T>C | ENSP00000359878.4:n.-362T>C |
| ENST00000541113.5:c.-382T>C | ENSP00000442324.1:n.-382T>C |