Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94103144T>C , CM000663.2:g.94103144T>C | GRCh38 |
| NC_000001.10:g.94568700T>C , CM000663.1:g.94568700T>C | GRCh37 |
| NC_000001.9:g.94341288T>C | NCBI36 |
| NG_009073.1:g.23006A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.443-2A>G MANE Select | NP_000341.2:n.443-2A>G |
| ENST00000370225.4:c.443-2A>G MANE Select | ENSP00000359245.3:n.443-2A>G |
| NM_000350.2:c.443-2A>G | NP_000341.2:n.443-2A>G |
| ENST00000370225.3:c.443-2A>G | ENSP00000359245.3:n.443-2A>G |
| ENST00000649773.1:c.443-2A>G | ENSP00000496882.1:n.443-2A>G |