Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011256A>G , CM000663.2:g.94011256A>G | GRCh38 |
| NC_000001.10:g.94476812A>G , CM000663.1:g.94476812A>G | GRCh37 |
| NC_000001.9:g.94249400A>G | NCBI36 |
| NG_009073.1:g.114894T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5584+6T>C MANE Select | NP_000341.2:n.5584+6T>C |
| ENST00000370225.4:c.5584+6T>C MANE Select | ENSP00000359245.3:n.5584+6T>C |
| NM_000350.2:c.5584+6T>C | NP_000341.2:n.5584+6T>C |
| ENST00000370225.3:c.5584+6T>C | ENSP00000359245.3:n.5584+6T>C |
| ENST00000536513.5:c.1960+6T>C | ENSP00000439707.2:n.1960+6T>C |