Linked Data
gnomAD v4:
4-186534158-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186534158T>G , CM000666.2:g.186534158T>G | GRCh38 |
| NC_000004.11:g.187455312T>G , CM000666.1:g.187455312T>G | GRCh37 |
| NC_000004.10:g.187692306T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703170.1:c.584A>C | ENSP00000515216.1:p.His195Pro | |
| ENST00000307161.5:c.584A>C MANE Select | ENSP00000302811.5:p.His195Pro | |
| ENST00000509111.2:c.147+21024A>C | ||
| NM_005958.3:c.584A>C | NP_005949.1:p.His195Pro | |
| XM_011532002.1:c.329A>C | XP_011530304.1:p.His110Pro | |
| XR_939589.1:n.1982-11486T>G | ||
| XR_939590.1:n.162-11486T>G | ||
| NM_005958.4:c.584A>C MANE Select | NP_005949.1:p.His195Pro | |
| XM_011532002.3:c.329A>C | XP_011530304.1:p.His110Pro | |
| XR_939589.2:n.1982-11486T>G | ||
| XR_939590.2:n.162-11486T>G |