Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2435106C>G , CM000681.2:g.2435106C>G | GRCh38 |
| NC_000019.9:g.2435104C>G , CM000681.1:g.2435104C>G | GRCh37 |
| NC_000019.8:g.2386104C>G | NCBI36 |
| NG_008355.1:g.26855G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.750G>C MANE Select | NP_116126.3:p.Gln250His |
| ENST00000325327.4:c.750G>C MANE Select | ENSP00000327054.3:p.Gln250His |
| NM_032737.3:c.750G>C | NP_116126.3:p.Gln250His |
| ENST00000325327.3:c.750G>C | ENSP00000327054.3:p.Gln250His |
| ENST00000527409.1:n.386G>C | |
| ENST00000534495.1:n.388G>C | |
| XM_011528378.1:c.750G>C | XP_011526680.1:p.Gln250His |
| XM_011528379.1:c.402G>C | XP_011526681.1:p.Gln134His |