Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873311G>T , CM000664.2:g.240873311G>T | GRCh38 |
| NC_000002.11:g.241812728G>T , CM000664.1:g.241812728G>T | GRCh37 |
| NC_000002.10:g.241461401G>T | NCBI36 |
| NG_008005.1:g.9567G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.595+262G>T MANE Select | ENSP00000302620.3:n.595+262G>T | |
| ENST00000307503.3:c.595+262G>T | ENSP00000302620.3:n.595+262G>T | |
| ENST00000472436.1:n.877G>T | ||
| ENST00000476698.1:n.332+262G>T | ||
| NM_000030.2:c.595+262G>T | NP_000021.1:n.595+262G>T | |
| NM_000030.3:c.595+262G>T MANE Select | NP_000021.1:n.595+262G>T |