Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94002176T>A , CM000663.2:g.94002176T>A | GRCh38 |
| NC_000001.10:g.94467732T>A , CM000663.1:g.94467732T>A | GRCh37 |
| NC_000001.9:g.94240320T>A | NCBI36 |
| NG_009073.1:g.123974A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6148-184A>T MANE Select | NP_000341.2:n.6148-184A>T |
| ENST00000370225.4:c.6148-184A>T MANE Select | ENSP00000359245.3:n.6148-184A>T |
| NM_000350.2:c.6148-184A>T | NP_000341.2:n.6148-184A>T |
| ENST00000370225.3:c.6148-184A>T | ENSP00000359245.3:n.6148-184A>T |
| ENST00000465352.1:n.564-184A>T | |
| ENST00000536513.5:c.2524-184A>T | ENSP00000439707.2:n.2524-184A>T |