Linked Data
ClinVar Variation Id:
402837
ClinVar RCV Id:
RCV000455680
dbSNP Id:
rs11808092
ExAC:
1:93073228 C / A
gnomAD v2:
1-93073228-C-A
gnomAD v3:
1-92607671-C-A
gnomAD v4:
1-92607671-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92607671C>A , CM000663.2:g.92607671C>A | GRCh38 |
| NC_000001.10:g.93073228C>A , CM000663.1:g.93073228C>A | GRCh37 |
| NC_000001.9:g.92845816C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540033.3:c.1869G>T | ENSP00000440826.2:p.Gln623His | |
| ENST00000706843.1:c.1860G>T | ENSP00000516584.1:p.Gln620His | |
| ENST00000706845.1:c.*1717G>T | ENSP00000516587.1:n.*1717G>T | |
| ENST00000706846.1:c.1884G>T | ENSP00000516588.1:p.Gln628His | |
| ENST00000706867.1:c.1965G>T | ENSP00000516594.1:p.Gln655His | |
| ENST00000706868.1:c.1884G>T | ENSP00000516595.1:p.Gln628His | |
| ENST00000706869.1:n.310-3872G>T | ||
| ENST00000706883.1:c.672G>T | ENSP00000516600.1:p.Gln224His | |
| ENST00000706885.1:c.1749G>T | ENSP00000516601.1:p.Gln583His | |
| ENST00000684568.2:c.1884G>T MANE Select | ENSP00000506999.1:p.Gln628His | |
| ENST00000370331.5:c.1836G>T | ENSP00000359356.1:p.Gln612His | |
| ENST00000468580.5:n.599G>T | ||
| ENST00000491940.5:n.689G>T | ||
| ENST00000492513.5:n.357G>T | ||
| ENST00000540033.2:c.1869G>T | ENSP00000440826.2:p.Gln623His | |
| NM_001308248.1:c.1869G>T | NP_001295177.1:p.Gln623His | |
| NM_005665.4:c.1836G>T | NP_005656.4:p.Gln612His | |
| NM_005665.5:c.1836G>T | NP_005656.4:p.Gln612His | |
| XM_011542099.1:c.2088G>T | XP_011540401.1:p.Gln696His | |
| XM_011542100.1:c.2088G>T | XP_011540402.1:p.Gln696His | |
| XM_011542101.1:c.1965G>T | XP_011540403.1:p.Gln655His | |
| XM_011542102.1:c.1941G>T | XP_011540404.1:p.Gln647His | |
| XM_011542103.1:c.2032-2269G>T | XP_011540405.1:n.2032-2269G>T | |
| XM_011542104.1:c.1929G>T | XP_011540406.1:p.Gln643His | |
| XM_011542105.1:c.1908G>T | XP_011540407.1:p.Gln636His | |
| XM_011542107.1:c.1836G>T | XP_011540409.1:p.Gln612His | |
| XM_011542108.1:c.2088G>T | XP_011540410.1:p.Gln696His | |
| XM_011542109.1:c.2088G>T | XP_011540411.1:p.Gln696His | |
| NM_001350197.1:c.1884G>T | NP_001337126.1:p.Gln628His | |
| NM_001350198.1:c.1884G>T | NP_001337127.1:p.Gln628His | |
| XM_017002269.1:c.2097G>T | XP_016857758.1:p.Gln699His | |
| XM_017002270.2:c.2088G>T | XP_016857759.1:p.Gln696His | |
| XM_017002271.2:c.2016G>T | XP_016857760.1:p.Gln672His | |
| XM_017002272.1:c.2097G>T | XP_016857761.1:p.Gln699His | |
| XM_017002273.2:c.1965G>T | XP_016857762.1:p.Gln655His | |
| XM_017002274.1:c.1965G>T | XP_016857763.1:p.Gln655His | |
| XM_017002275.1:c.1965G>T | XP_016857764.1:p.Gln655His | |
| XM_017002276.2:c.1884G>T | XP_016857765.1:p.Gln628His | |
| XM_017002277.1:c.1869G>T | XP_016857766.1:p.Gln623His | |
| XM_017002278.1:c.1950G>T | XP_016857767.1:p.Gln650His | |
| XM_017002279.1:c.1830G>T | XP_016857768.1:p.Gln610His | |
| XM_017002281.2:c.1860G>T | XP_016857770.1:p.Gln620His | |
| XM_017002282.1:c.2097G>T | XP_016857771.1:p.Gln699His | |
| XM_017002283.1:c.2016G>T | XP_016857772.1:p.Gln672His | |
| XM_017002284.2:c.1737G>T | XP_016857773.1:p.Gln579His | |
| XM_017002286.2:c.1473G>T | XP_016857775.1:p.Gln491His | |
| XM_017002287.2:c.1473G>T | XP_016857776.1:p.Gln491His | |
| XM_017002288.1:c.1473G>T | XP_016857777.1:p.Gln491His | |
| XM_024449686.1:c.2016G>T | XP_024305454.1:p.Gln672His | |
| XM_024449689.1:c.1917G>T | XP_024305457.1:p.Gln639His | |
| XM_024449690.1:c.1749G>T | XP_024305458.1:p.Gln583His | |
| NM_001308248.2:c.1869G>T | NP_001295177.1:p.Gln623His | |
| NM_001350197.2:c.1884G>T MANE Select | NP_001337126.1:p.Gln628His | |
| NM_001350198.2:c.1884G>T | NP_001337127.1:p.Gln628His | |
| NM_001377210.1:c.1860G>T | NP_001364139.1:p.Gln620His | |
| NM_001377211.1:c.1842G>T | NP_001364140.1:p.Gln614His | |
| NM_001377212.1:c.1737G>T | NP_001364141.1:p.Gln579His | |
| NM_001377213.1:c.1965G>T | NP_001364142.1:p.Gln655His | |
| NM_005665.6:c.1836G>T | NP_005656.4:p.Gln612His |