Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.124094727G>T , CM000664.2:g.124094727G>T | GRCh38 |
| NC_000002.11:g.124852304G>T , CM000664.1:g.124852304G>T | GRCh37 |
| NC_000002.10:g.124568774G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682447.1:c.82+68995G>T MANE Select | ENSP00000508115.1:n.82+68995G>T | |
| ENST00000423939.2:n.447-40341G>T | ||
| ENST00000431078.1:c.82+68995G>T | ENSP00000399013.1:n.82+68995G>T | |
| NM_130773.3:c.82+68995G>T | NP_570129.1:n.82+68995G>T | |
| XM_006712258.1:c.82+68995G>T | XP_006712321.1:n.82+68995G>T | |
| XM_017003316.1:c.82+68995G>T | XP_016858805.1:n.82+68995G>T | |
| NM_001367498.1:c.82+68995G>T MANE Select | NP_001354427.1:n.82+68995G>T | |
| NM_130773.4:c.82+68995G>T | NP_570129.1:n.82+68995G>T |