Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.124090114T>G , CM000664.2:g.124090114T>G | GRCh38 |
| NC_000002.11:g.124847691T>G , CM000664.1:g.124847691T>G | GRCh37 |
| NC_000002.10:g.124564161T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682447.1:c.82+64382T>G MANE Select | ENSP00000508115.1:n.82+64382T>G | |
| ENST00000423939.2:n.447-44954T>G | ||
| ENST00000431078.1:c.82+64382T>G | ENSP00000399013.1:n.82+64382T>G | |
| NM_130773.3:c.82+64382T>G | NP_570129.1:n.82+64382T>G | |
| XM_006712258.1:c.82+64382T>G | XP_006712321.1:n.82+64382T>G | |
| XM_017003316.1:c.82+64382T>G | XP_016858805.1:n.82+64382T>G | |
| NM_001367498.1:c.82+64382T>G MANE Select | NP_001354427.1:n.82+64382T>G | |
| NM_130773.4:c.82+64382T>G | NP_570129.1:n.82+64382T>G |