Linked Data
ClinVar Variation Id:
520720
dbSNP Id:
rs763587293
ExAC:
X:44921987 A / C
gnomAD v2:
X-44921987-A-C
gnomAD v3:
X-45062742-A-C
gnomAD v4:
X-45062742-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45062742A>C , CM000685.2:g.45062742A>C | GRCh38 |
| NC_000023.10:g.44921987A>C , CM000685.1:g.44921987A>C | GRCh37 |
| NC_000023.9:g.44806931A>C | NCBI36 |
| NG_016260.1:g.194565A>C , LRG_616:g.194565A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621147.5:c.1197-680A>C | ENSP00000478793.1:n.1197-680A>C | |
| ENST00000682908.1:c.1421A>C | ENSP00000508158.1:n.1421A>C | |
| ENST00000683021.1:c.1447-680A>C | ENSP00000507416.1:n.1447-680A>C | |
| ENST00000683425.1:c.*1004A>C | ENSP00000507291.1:n.*1004A>C | |
| ENST00000684352.1:c.1542A>C | ENSP00000508379.1:p.Gln514His | |
| ENST00000377967.9:c.1521A>C | ENSP00000367203.4:p.Gln507His | |
| ENST00000382899.9:c.1542A>C | ENSP00000372355.6:p.Gln514His | |
| ENST00000536777.6:c.1386A>C | ENSP00000437405.3:p.Gln462His | |
| ENST00000543216.6:c.1291-680A>C | ENSP00000443078.3:n.1291-680A>C | |
| ENST00000611820.5:c.1677A>C MANE Select | ENSP00000483595.2:p.Gln559His | |
| ENST00000674541.1:c.*809A>C | ENSP00000501919.1:n.*809A>C | |
| ENST00000674564.1:c.1447-680A>C | ENSP00000502150.1:n.1447-680A>C | |
| ENST00000674586.1:c.1599A>C | ENSP00000502660.1:p.Gln533His | |
| ENST00000674659.1:c.*965A>C | ENSP00000502255.1:n.*965A>C | |
| ENST00000674739.1:n.1906A>C | ||
| ENST00000674867.1:c.1383A>C | ENSP00000502060.1:p.Gln461His | |
| ENST00000675157.1:n.1135-680A>C | ||
| ENST00000675182.1:n.1561A>C | ||
| ENST00000675440.1:n.1697A>C | ||
| ENST00000675514.1:c.1521A>C | ENSP00000502759.1:p.Gln507His | |
| ENST00000675525.1:n.3643A>C | ||
| ENST00000675546.1:n.1215A>C | ||
| ENST00000675577.1:c.1426-680A>C | ENSP00000501855.1:n.1426-680A>C | |
| ENST00000675816.1:n.1697A>C | ||
| ENST00000676062.1:c.1542A>C | ENSP00000502311.1:p.Gln514His | |
| ENST00000676085.1:c.*714-680A>C | ENSP00000501752.1:n.*714-680A>C | |
| ENST00000676133.1:c.*1111A>C | ENSP00000502586.1:n.*1111A>C | |
| ENST00000676343.1:c.1542A>C | ENSP00000501761.1:p.Gln514His | |
| ENST00000676389.1:n.1501A>C | ||
| ENST00000377967.8:c.1521A>C | ENSP00000367203.4:p.Gln507His | |
| ENST00000382899.8:c.1470A>C | ENSP00000372355.5:p.Gln490His | |
| ENST00000414389.5:c.313A>C | ||
| ENST00000433797.5:c.448A>C | ||
| ENST00000451692.5:c.417-680A>C | ||
| ENST00000536777.5:c.1314A>C | ENSP00000437405.2:p.Gln438His | |
| ENST00000543216.5:c.1375-680A>C | ENSP00000443078.2:n.1375-680A>C | |
| ENST00000611820.4:c.1605A>C | ENSP00000483595.1:p.Gln535His | |
| ENST00000621147.4:c.1197-680A>C | ENSP00000478793.1:n.1197-680A>C | |
| NM_001291415.1:c.1677A>C , LRG_616t1:c.1677A>C | NP_001278344.1:p.Gln559His | |
| NM_001291416.1:c.1542A>C | NP_001278345.1:p.Gln514His | |
| NM_001291417.1:c.1386A>C | NP_001278346.1:p.Gln462His | |
| NM_001291418.1:c.1291-680A>C | NP_001278347.1:n.1291-680A>C | |
| NM_001291421.1:c.633A>C | NP_001278350.1:p.Gln211His | |
| NM_021140.3:c.1521A>C | NP_066963.2:p.Gln507His | |
| NR_111960.1:n.1824-680A>C | ||
| XM_005272656.3:c.1582-680A>C | XP_005272713.1:n.1582-680A>C | |
| XM_005272659.3:c.1426-680A>C | XP_005272716.1:n.1426-680A>C | |
| XM_011543957.1:c.1734A>C | XP_011542259.1:p.Gln578His | |
| XM_011543958.1:c.1677A>C | XP_011542260.1:p.Gln559His | |
| XM_011543959.1:c.1639-680A>C | XP_011542261.1:n.1639-680A>C | |
| XM_011543960.1:c.1734A>C | XP_011542262.1:p.Gln578His | |
| XM_011543961.1:c.1599A>C | XP_011542263.1:p.Gln533His | |
| XM_011543962.1:c.1578A>C | XP_011542264.1:p.Gln526His | |
| XM_011543963.1:c.1542A>C | XP_011542265.1:p.Gln514His | |
| XM_011543964.1:c.1521A>C | XP_011542266.1:p.Gln507His | |
| XM_011543965.1:c.1504-680A>C | XP_011542267.1:n.1504-680A>C | |
| XM_011543966.1:c.1483-680A>C | XP_011542268.1:n.1483-680A>C | |
| XM_011543967.1:c.1578A>C | XP_011542269.1:p.Gln526His | |
| XM_011543968.1:c.1443A>C | XP_011542270.1:p.Gln481His | |
| XM_011543969.1:c.1447-680A>C | XP_011542271.1:n.1447-680A>C | |
| XM_011543970.1:c.1426-680A>C | XP_011542272.1:n.1426-680A>C | |
| XM_011543971.1:c.1504-680A>C | XP_011542273.1:n.1504-680A>C | |
| XM_011543972.1:c.1386A>C | XP_011542274.1:p.Gln462His | |
| XM_011543973.1:c.1443A>C | XP_011542275.1:p.Gln481His | |
| XM_011543974.1:c.1521A>C | XP_011542276.1:p.Gln507His | |
| XM_011543975.1:c.924A>C | XP_011542277.1:p.Gln308His | |
| XM_011543976.1:c.1734A>C | XP_011542278.1:p.Gln578His | |
| XR_949018.1:n.2111A>C | ||
| XM_005272656.5:c.1582-680A>C | XP_005272713.1:n.1582-680A>C | |
| XM_005272659.5:c.1426-680A>C | XP_005272716.1:n.1426-680A>C | |
| XM_011543958.3:c.1677A>C | XP_011542260.1:p.Gln559His | |
| XM_011543963.3:c.1542A>C | XP_011542265.1:p.Gln514His | |
| XM_011543964.3:c.1521A>C | XP_011542266.1:p.Gln507His | |
| XM_011543969.3:c.1447-680A>C | XP_011542271.1:n.1447-680A>C | |
| XM_011543970.3:c.1426-680A>C | XP_011542272.1:n.1426-680A>C | |
| XM_011543972.3:c.1386A>C | XP_011542274.1:p.Gln462His | |
| XM_011543974.2:c.1521A>C | XP_011542276.1:p.Gln507His | |
| XM_011543975.2:c.924A>C | XP_011542277.1:p.Gln308His | |
| XM_017029783.2:c.1447-680A>C | XP_016885272.1:n.1447-680A>C | |
| XM_017029784.1:c.789A>C | XP_016885273.1:p.Gln263His | |
| XM_017029785.1:c.538-680A>C | XP_016885274.1:n.538-680A>C | |
| XM_024452438.1:c.1582-680A>C | XP_024308206.1:n.1582-680A>C | |
| XM_024452439.1:c.1152A>C | XP_024308207.1:p.Gln384His | |
| XR_002958804.1:n.2047A>C | ||
| NM_001291415.2:c.1677A>C MANE Select | NP_001278344.1:p.Gln559His | |
| NM_001291416.2:c.1542A>C | NP_001278345.1:p.Gln514His | |
| NM_001291417.2:c.1386A>C | NP_001278346.1:p.Gln462His | |
| NM_001291418.2:c.1291-680A>C | NP_001278347.1:n.1291-680A>C | |
| NM_001291421.2:c.633A>C | NP_001278350.1:p.Gln211His | |
| NM_021140.4:c.1521A>C | NP_066963.2:p.Gln507His | |
| NR_111960.2:n.1811-680A>C |