Linked Data
gnomAD v4:
4-5015157-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5015157C>G , CM000666.2:g.5015157C>G | GRCh38 |
| NC_000004.11:g.5016884C>G , CM000666.1:g.5016884C>G | GRCh37 |
| NC_000004.10:g.5067785C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307746.9:c.405G>C MANE Select | ENSP00000303550.4:p.Gln135His | |
| ENST00000307746.8:c.405G>C | ENSP00000303550.4:p.Gln135His | |
| ENST00000506508.1:c.223G>C | ||
| ENST00000509419.1:c.272G>C | ||
| NM_018659.2:c.405G>C | NP_061129.1:p.Gln135His | |
| XR_925085.1:n.149-4766C>G | ||
| XR_925086.1:n.149-4766C>G | ||
| XR_925087.1:n.149-4766C>G | ||
| XM_017008299.1:c.*55G>C | XP_016863788.1:n.*55G>C | |
| NM_018659.3:c.405G>C MANE Select | NP_061129.1:p.Gln135His |