Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149928002C>T , CM000663.2:g.149928002C>T | GRCh38 |
| NC_000001.10:g.149899894C>T , CM000663.1:g.149899894C>T | GRCh37 |
| NC_000001.9:g.148166518C>T | NCBI36 |
| NG_032777.1:g.5251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.8:c.-243G>A | ENSP00000271628.8:n.-243G>A | |
| NM_005850.4:c.-243G>A | NP_005841.1:n.-243G>A |