Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021094A>C , CM000663.2:g.94021094A>C | GRCh38 |
| NC_000001.10:g.94486650A>C , CM000663.1:g.94486650A>C | GRCh37 |
| NC_000001.9:g.94259238A>C | NCBI36 |
| NG_009073.1:g.105056T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5018+146T>G MANE Select | ENSP00000359245.3:n.5018+146T>G | |
| ENST00000370225.3:c.5018+146T>G | ENSP00000359245.3:n.5018+146T>G | |
| ENST00000460514.1:n.512+146T>G | ||
| ENST00000470771.1:n.128+146T>G | ||
| ENST00000536513.5:c.1394+146T>G | ENSP00000439707.2:n.1394+146T>G | |
| NM_000350.2:c.5018+146T>G | NP_000341.2:n.5018+146T>G | |
| NM_000350.3:c.5018+146T>G MANE Select | NP_000341.2:n.5018+146T>G |