Linked Data
dbSNP Id:
rs1476137528
gnomAD v2:
4-187455311-G-A
gnomAD v3:
4-186534157-G-A
gnomAD v4:
4-186534157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186534157G>A , CM000666.2:g.186534157G>A | GRCh38 |
| NC_000004.11:g.187455311G>A , CM000666.1:g.187455311G>A | GRCh37 |
| NC_000004.10:g.187692305G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703170.1:c.585C>T | ENSP00000515216.1:p.His195= | |
| ENST00000307161.5:c.585C>T MANE Select | ENSP00000302811.5:p.His195= | |
| ENST00000509111.2:c.147+21025C>T | ||
| NM_005958.3:c.585C>T | NP_005949.1:p.His195= | |
| XM_011532002.1:c.330C>T | XP_011530304.1:p.His110= | |
| XR_939589.1:n.1982-11487G>A | ||
| XR_939590.1:n.162-11487G>A | ||
| NM_005958.4:c.585C>T MANE Select | NP_005949.1:p.His195= | |
| XM_011532002.3:c.330C>T | XP_011530304.1:p.His110= | |
| XR_939589.2:n.1982-11487G>A | ||
| XR_939590.2:n.162-11487G>A |