Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98619740G>A , CM000669.2:g.98619740G>A | GRCh38 |
| NC_000007.13:g.98249052G>A , CM000669.1:g.98249052G>A | GRCh37 |
| NC_000007.12:g.98086988G>A | NCBI36 |
| NG_009905.1:g.7456G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002523.3:c.524G>A MANE Select | NP_002514.1:p.Arg175His |
| ENST00000265634.4:c.524G>A MANE Select | ENSP00000265634.3:p.Arg175His |
| NM_002523.2:c.524G>A | NP_002514.1:p.Arg175His |
| ENST00000265634.3:c.524G>A | ENSP00000265634.3:p.Arg175His |
| ENST00000466102.1:n.74G>A |