Linked Data
ClinVar Variation Id:
17510
dbSNP Id:
rs121912819
ExAC:
10:50863185 G / A
gnomAD v2:
10-50863185-G-A
gnomAD v3:
10-49655139-G-A
gnomAD v4:
10-49655139-G-A
PubMed:
PMID:11172068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49655139G>A , CM000672.2:g.49655139G>A | GRCh38 |
| NC_000010.10:g.50863185G>A , CM000672.1:g.50863185G>A | GRCh37 |
| NC_000010.9:g.50533191G>A | NCBI36 |
| NG_011797.1:g.51045G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337653.7:c.1679G>A MANE Select | ENSP00000337103.2:p.Arg560His | |
| ENST00000638282.1:c.*516G>A | ENSP00000492646.1:n.*516G>A | |
| ENST00000638683.1:n.316G>A | ||
| ENST00000640822.1:c.542G>A | ENSP00000491328.1:p.Arg181His | |
| ENST00000337653.6:c.1679G>A | ENSP00000337103.2:p.Arg560His | |
| ENST00000339797.5:c.1325G>A | ENSP00000343486.1:p.Arg442His | |
| ENST00000351556.7:c.1325G>A | ENSP00000345878.3:p.Arg442His | |
| ENST00000395559.6:c.1325G>A | ENSP00000378926.2:p.Arg442His | |
| ENST00000395562.2:c.1433G>A | ENSP00000378929.2:p.Arg478His | |
| ENST00000466590.6:c.*1410G>A | ENSP00000473443.1:n.*1410G>A | |
| NM_001142929.1:c.1325G>A | NP_001136401.1:p.Arg442His | |
| NM_001142933.1:c.1433G>A | NP_001136405.1:p.Arg478His | |
| NM_001142934.1:c.1325G>A | NP_001136406.1:p.Arg442His | |
| NM_020549.4:c.1679G>A | NP_065574.3:p.Arg560His | |
| NM_020984.3:c.1325G>A | NP_066264.3:p.Arg442His | |
| NM_020985.3:c.1325G>A | NP_066265.3:p.Arg442His | |
| NM_020986.3:c.1325G>A | NP_066266.3:p.Arg442His | |
| NM_001142929.2:c.1325G>A | NP_001136401.2:p.Arg442His | |
| NM_001142933.2:c.1433G>A | NP_001136405.2:p.Arg478His | |
| NM_001142934.2:c.1325G>A | NP_001136406.2:p.Arg442His | |
| NM_020549.5:c.1679G>A MANE Select | NP_065574.4:p.Arg560His | |
| NM_020984.4:c.1325G>A | NP_066264.4:p.Arg442His | |
| NM_020985.4:c.1325G>A | NP_066265.4:p.Arg442His | |
| NM_020986.4:c.1325G>A | NP_066266.4:p.Arg442His |