Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5019301C>G , CM000666.2:g.5019301C>G | GRCh38 |
| NC_000004.11:g.5021028C>G , CM000666.1:g.5021028C>G | GRCh37 |
| NC_000004.10:g.5071929C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018659.3:c.145G>C MANE Select | NP_061129.1:p.Glu49Gln |
| ENST00000307746.9:c.145G>C MANE Select | ENSP00000303550.4:p.Glu49Gln |
| NM_018659.2:c.145G>C | NP_061129.1:p.Glu49Gln |
| ENST00000307746.8:c.145G>C | ENSP00000303550.4:p.Glu49Gln |
| ENST00000506508.1:c.137G>C | |
| ENST00000509419.1:c.141G>C | |
| XM_017008299.1:c.145G>C | XP_016863788.1:p.Glu49Gln |
| XR_925085.1:n.149-622C>G | |
| XR_925086.1:n.149-622C>G | |
| XR_925087.1:n.149-622C>G |