Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130163682T>A , CM000674.2:g.130163682T>A | GRCh38 |
| NC_000012.11:g.130648227T>A , CM000674.1:g.130648227T>A | GRCh37 |
| NC_000012.10:g.129214180T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007197.4:c.740T>A MANE Select | NP_009128.1:p.Leu247His |
| ENST00000229030.5:c.740T>A MANE Select | ENSP00000229030.4:p.Leu247His |
| NM_007197.3:c.740T>A | NP_009128.1:p.Leu247His |
| ENST00000229030.4:c.740T>A | ENSP00000229030.4:p.Leu247His |
| ENST00000539839.1:c.642T>A | ENSP00000438460.1:p.Ala214= |