Linked Data
ClinVar Variation Id:
284610
dbSNP Id:
rs200638114
ExAC:
X:44928956 C / T
gnomAD v2:
X-44928956-C-T
gnomAD v3:
X-45069711-C-T
gnomAD v4:
X-45069711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45069711C>T , CM000685.2:g.45069711C>T | GRCh38 |
| NC_000023.10:g.44928956C>T , CM000685.1:g.44928956C>T | GRCh37 |
| NC_000023.9:g.44813900C>T | NCBI36 |
| NG_016260.1:g.201534C>T , LRG_616:g.201534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621147.5:c.1725C>T | ENSP00000478793.1:n.1725C>T | |
| ENST00000682908.1:c.1956C>T | ENSP00000508158.1:n.1956C>T | |
| ENST00000683021.1:c.1975C>T | ENSP00000507416.1:p.Pro659Ser | |
| ENST00000683425.1:c.*1539C>T | ENSP00000507291.1:n.*1539C>T | |
| ENST00000684352.1:c.2077C>T | ENSP00000508379.1:p.Pro693Ser | |
| ENST00000377967.9:c.2056C>T | ENSP00000367203.4:p.Pro686Ser | |
| ENST00000382899.9:c.2077C>T | ENSP00000372355.6:p.Pro693Ser | |
| ENST00000536777.6:c.1921C>T | ENSP00000437405.3:p.Pro641Ser | |
| ENST00000543216.6:c.1819C>T | ENSP00000443078.3:p.Pro607Ser | |
| ENST00000611820.5:c.2212C>T MANE Select | ENSP00000483595.2:p.Pro738Ser | |
| ENST00000674541.1:c.*1344C>T | ENSP00000501919.1:n.*1344C>T | |
| ENST00000674564.1:c.1975C>T | ENSP00000502150.1:p.Pro659Ser | |
| ENST00000674586.1:c.2134C>T | ENSP00000502660.1:p.Pro712Ser | |
| ENST00000674659.1:c.*1500C>T | ENSP00000502255.1:n.*1500C>T | |
| ENST00000674739.1:n.3114C>T | ||
| ENST00000674867.1:c.1918C>T | ENSP00000502060.1:p.Pro640Ser | |
| ENST00000675157.1:n.1663C>T | ||
| ENST00000675182.1:n.2096C>T | ||
| ENST00000675440.1:n.2232C>T | ||
| ENST00000675514.1:c.2056C>T | ENSP00000502759.1:p.Pro686Ser | |
| ENST00000675525.1:n.4178C>T | ||
| ENST00000675546.1:n.2423C>T | ||
| ENST00000675577.1:c.1954C>T | ENSP00000501855.1:p.Pro652Ser | |
| ENST00000675816.1:n.2232C>T | ||
| ENST00000676062.1:c.2077C>T | ENSP00000502311.1:p.Pro693Ser | |
| ENST00000676085.1:c.*1242C>T | ENSP00000501752.1:n.*1242C>T | |
| ENST00000676133.1:c.*2109C>T | ENSP00000502586.1:n.*2109C>T | |
| ENST00000676343.1:c.2077C>T | ENSP00000501761.1:p.Pro693Ser | |
| ENST00000676389.1:n.2499C>T | ||
| ENST00000377967.8:c.2056C>T | ENSP00000367203.4:p.Pro686Ser | |
| ENST00000382899.8:c.2005C>T | ENSP00000372355.5:p.Pro669Ser | |
| ENST00000414389.5:c.848C>T | ||
| ENST00000433797.5:c.983C>T | ||
| ENST00000536777.5:c.1849C>T | ENSP00000437405.2:p.Pro617Ser | |
| ENST00000543216.5:c.1903C>T | ENSP00000443078.2:p.Pro635Ser | |
| ENST00000611820.4:c.2140C>T | ENSP00000483595.1:p.Pro714Ser | |
| ENST00000621147.4:c.1725C>T | ENSP00000478793.1:n.1725C>T | |
| NM_001291415.1:c.2212C>T , LRG_616t1:c.2212C>T | NP_001278344.1:p.Pro738Ser | |
| NM_001291416.1:c.2077C>T | NP_001278345.1:p.Pro693Ser | |
| NM_001291417.1:c.1921C>T | NP_001278346.1:p.Pro641Ser | |
| NM_001291418.1:c.1819C>T | NP_001278347.1:p.Pro607Ser | |
| NM_001291421.1:c.1168C>T | NP_001278350.1:p.Pro390Ser | |
| NM_021140.3:c.2056C>T | NP_066963.2:p.Pro686Ser | |
| NR_111960.1:n.2352C>T | ||
| XM_005272656.3:c.2110C>T | XP_005272713.1:p.Pro704Ser | |
| XM_005272659.3:c.1954C>T | XP_005272716.1:p.Pro652Ser | |
| XM_011543957.1:c.2269C>T | XP_011542259.1:p.Pro757Ser | |
| XM_011543958.1:c.2212C>T | XP_011542260.1:p.Pro738Ser | |
| XM_011543959.1:c.2167C>T | XP_011542261.1:p.Pro723Ser | |
| XM_011543960.1:c.2269C>T | XP_011542262.1:p.Pro757Ser | |
| XM_011543961.1:c.2134C>T | XP_011542263.1:p.Pro712Ser | |
| XM_011543962.1:c.2113C>T | XP_011542264.1:p.Pro705Ser | |
| XM_011543963.1:c.2077C>T | XP_011542265.1:p.Pro693Ser | |
| XM_011543964.1:c.2056C>T | XP_011542266.1:p.Pro686Ser | |
| XM_011543965.1:c.2032C>T | XP_011542267.1:p.Pro678Ser | |
| XM_011543966.1:c.2011C>T | XP_011542268.1:p.Pro671Ser | |
| XM_011543967.1:c.2113C>T | XP_011542269.1:p.Pro705Ser | |
| XM_011543968.1:c.1978C>T | XP_011542270.1:p.Pro660Ser | |
| XM_011543969.1:c.1975C>T | XP_011542271.1:p.Pro659Ser | |
| XM_011543970.1:c.1954C>T | XP_011542272.1:p.Pro652Ser | |
| XM_011543971.1:c.2032C>T | XP_011542273.1:p.Pro678Ser | |
| XM_011543972.1:c.1921C>T | XP_011542274.1:p.Pro641Ser | |
| XM_011543973.1:c.1978C>T | XP_011542275.1:p.Pro660Ser | |
| XM_011543974.1:c.2056C>T | XP_011542276.1:p.Pro686Ser | |
| XM_011543975.1:c.1459C>T | XP_011542277.1:p.Pro487Ser | |
| XM_011543976.1:c.2269C>T | XP_011542278.1:p.Pro757Ser | |
| XR_949018.1:n.2646C>T | ||
| XM_005272656.5:c.2110C>T | XP_005272713.1:p.Pro704Ser | |
| XM_005272659.5:c.1954C>T | XP_005272716.1:p.Pro652Ser | |
| XM_011543958.3:c.2212C>T | XP_011542260.1:p.Pro738Ser | |
| XM_011543963.3:c.2077C>T | XP_011542265.1:p.Pro693Ser | |
| XM_011543964.3:c.2056C>T | XP_011542266.1:p.Pro686Ser | |
| XM_011543969.3:c.1975C>T | XP_011542271.1:p.Pro659Ser | |
| XM_011543970.3:c.1954C>T | XP_011542272.1:p.Pro652Ser | |
| XM_011543972.3:c.1921C>T | XP_011542274.1:p.Pro641Ser | |
| XM_011543974.2:c.2056C>T | XP_011542276.1:p.Pro686Ser | |
| XM_011543975.2:c.1459C>T | XP_011542277.1:p.Pro487Ser | |
| XM_017029783.2:c.1975C>T | XP_016885272.1:p.Pro659Ser | |
| XM_017029784.1:c.1324C>T | XP_016885273.1:p.Pro442Ser | |
| XM_017029785.1:c.1066C>T | XP_016885274.1:p.Pro356Ser | |
| XM_024452438.1:c.2110C>T | XP_024308206.1:p.Pro704Ser | |
| XM_024452439.1:c.1687C>T | XP_024308207.1:p.Pro563Ser | |
| XR_002958804.1:n.2582C>T | ||
| NM_001291415.2:c.2212C>T MANE Select | NP_001278344.1:p.Pro738Ser | |
| NM_001291416.2:c.2077C>T | NP_001278345.1:p.Pro693Ser | |
| NM_001291417.2:c.1921C>T | NP_001278346.1:p.Pro641Ser | |
| NM_001291418.2:c.1819C>T | NP_001278347.1:p.Pro607Ser | |
| NM_001291421.2:c.1168C>T | NP_001278350.1:p.Pro390Ser | |
| NM_021140.4:c.2056C>T | NP_066963.2:p.Pro686Ser | |
| NR_111960.2:n.2339C>T |