Linked Data
ClinVar Variation Id:
1799855
ClinVar RCV Id:
RCV002460503
dbSNP Id:
rs1030551584
gnomAD v2:
8-133584687-T-C
gnomAD v3:
8-132572439-T-C
gnomAD v4:
8-132572439-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572439T>C , CM000670.2:g.132572439T>C | GRCh38 |
| NC_000008.10:g.133584687T>C , CM000670.1:g.133584687T>C | GRCh37 |
| NC_000008.9:g.133653869T>C | NCBI36 |
| NG_033068.1:g.108177A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1268A>G MANE Select | ENSP00000484634.1:p.His423Arg | |
| ENST00000250173.5:c.*132A>G | ENSP00000250173.2:n.*132A>G | |
| ENST00000518642.5:c.*132A>G | ENSP00000428610.1:n.*132A>G | |
| ENST00000519595.5:c.1268A>G | ENSP00000429791.1:p.His423Arg | |
| ENST00000522597.1:n.537A>G | ||
| ENST00000522789.5:c.488A>G | ENSP00000428015.1:p.His163Arg | |
| ENST00000618342.1:c.1268A>G | ENSP00000484802.1:p.His423Arg | |
| ENST00000620350.4:c.1268A>G | ENSP00000484634.1:p.His423Arg | |
| NM_012472.4:c.1268A>G | NP_036604.2:p.His423Arg | |
| NR_073525.1:n.1492A>G | ||
| XM_006716538.2:c.1286A>G | XP_006716601.2:p.His429Arg | |
| XM_011516950.1:c.1226A>G | XP_011515252.1:p.His409Arg | |
| XM_011516952.1:c.1022A>G | XP_011515254.1:p.His341Arg | |
| XM_011516953.1:c.908A>G | XP_011515255.1:p.His303Arg | |
| XM_011516954.1:c.908A>G | XP_011515256.1:p.His303Arg | |
| XR_428377.2:n.1520A>G | ||
| NM_001321961.1:c.1208A>G | NP_001308890.1:p.His403Arg | |
| NM_001321962.1:c.1022A>G | NP_001308891.1:p.His341Arg | |
| NM_001321963.1:c.908A>G | NP_001308892.1:p.His303Arg | |
| NM_001321964.1:c.908A>G | NP_001308893.1:p.His303Arg | |
| NM_001321965.1:c.908A>G | NP_001308894.1:p.His303Arg | |
| NM_001321966.1:c.848A>G | NP_001308895.1:p.His283Arg | |
| NM_012472.5:c.1268A>G | NP_036604.2:p.His423Arg | |
| NR_073525.2:n.1492A>G | ||
| NR_135905.1:n.1481A>G | ||
| NR_135906.1:n.922A>G | ||
| NR_135907.1:n.1168A>G | ||
| NR_135908.1:n.862A>G | ||
| NR_135909.1:n.1286A>G | ||
| NR_135910.1:n.1593A>G | ||
| NR_135911.1:n.1672A>G | ||
| NR_135912.1:n.2231A>G | ||
| NR_135913.1:n.1918A>G | ||
| XM_006716538.3:c.1286A>G | XP_006716601.2:p.His429Arg | |
| XM_011516950.2:c.1226A>G | XP_011515252.1:p.His409Arg | |
| XM_017013296.1:c.1166A>G | XP_016868785.1:p.His389Arg | |
| XM_017013297.1:c.908A>G | XP_016868786.1:p.His303Arg | |
| XM_017013298.1:c.908A>G | XP_016868787.1:p.His303Arg | |
| NM_012472.6:c.1268A>G MANE Select | NP_036604.2:p.His423Arg | |
| NM_001321961.2:c.1208A>G | NP_001308890.1:p.His403Arg | |
| NM_001321962.2:c.1022A>G | NP_001308891.1:p.His341Arg | |
| NM_001321963.2:c.908A>G | NP_001308892.1:p.His303Arg | |
| NM_001321964.2:c.908A>G | NP_001308893.1:p.His303Arg | |
| NM_001321965.2:c.908A>G | NP_001308894.1:p.His303Arg | |
| NM_001321966.2:c.848A>G | NP_001308895.1:p.His283Arg | |
| NR_073525.3:n.1420A>G | ||
| NR_135905.2:n.1409A>G | ||
| NR_135906.2:n.850A>G | ||
| NR_135907.2:n.1096A>G | ||
| NR_135908.2:n.790A>G | ||
| NR_135909.2:n.1306A>G | ||
| NR_135910.2:n.1656A>G | ||
| NR_135911.2:n.1776A>G | ||
| NR_135912.2:n.2335A>G | ||
| NR_135913.2:n.2022A>G |