Linked Data
ClinVar Variation Id:
197330
dbSNP Id:
rs767711383
ExAC:
X:44833970 C / T
gnomAD v2:
X-44833970-C-T
gnomAD v3:
X-44974725-C-T
gnomAD v4:
X-44974725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44974725C>T , CM000685.2:g.44974725C>T | GRCh38 |
| NC_000023.10:g.44833970C>T , CM000685.1:g.44833970C>T | GRCh37 |
| NC_000023.9:g.44718914C>T | NCBI36 |
| NG_016260.1:g.106548C>T , LRG_616:g.106548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621147.5:c.384+10C>T | ENSP00000478793.1:n.384+10C>T | |
| ENST00000682908.1:c.384+10C>T | ENSP00000508158.1:n.384+10C>T | |
| ENST00000683021.1:c.384+10C>T | ENSP00000507416.1:n.384+10C>T | |
| ENST00000683425.1:c.275+10C>T | ENSP00000507291.1:n.275+10C>T | |
| ENST00000684352.1:c.384+10C>T | ENSP00000508379.1:n.384+10C>T | |
| ENST00000377967.9:c.384+10C>T | ENSP00000367203.4:n.384+10C>T | |
| ENST00000382899.9:c.384+10C>T | ENSP00000372355.6:n.384+10C>T | |
| ENST00000536777.6:c.384+10C>T | ENSP00000437405.3:n.384+10C>T | |
| ENST00000543216.6:c.384+10C>T | ENSP00000443078.3:n.384+10C>T | |
| ENST00000611820.5:c.384+10C>T MANE Select | ENSP00000483595.2:n.384+10C>T | |
| ENST00000674541.1:c.384+10C>T | ENSP00000501919.1:n.384+10C>T | |
| ENST00000674564.1:c.384+10C>T | ENSP00000502150.1:n.384+10C>T | |
| ENST00000674586.1:c.384+10C>T | ENSP00000502660.1:n.384+10C>T | |
| ENST00000674659.1:c.384+10C>T | ENSP00000502255.1:n.384+10C>T | |
| ENST00000674739.1:n.748+10C>T | ||
| ENST00000674867.1:c.226-36236C>T | ENSP00000502060.1:n.226-36236C>T | |
| ENST00000675157.1:n.349+10C>T | ||
| ENST00000675182.1:n.268+10C>T | ||
| ENST00000675440.1:n.539+10C>T | ||
| ENST00000675514.1:c.384+10C>T | ENSP00000502759.1:n.384+10C>T | |
| ENST00000675577.1:c.384+10C>T | ENSP00000501855.1:n.384+10C>T | |
| ENST00000675816.1:n.539+10C>T | ||
| ENST00000676062.1:c.384+10C>T | ENSP00000502311.1:n.384+10C>T | |
| ENST00000676085.1:c.384+10C>T | ENSP00000501752.1:n.384+10C>T | |
| ENST00000676133.1:c.334+13333C>T | ENSP00000502586.1:n.334+13333C>T | |
| ENST00000676343.1:c.384+10C>T | ENSP00000501761.1:n.384+10C>T | |
| ENST00000676389.1:n.343+10C>T | ||
| ENST00000377967.8:c.384+10C>T | ENSP00000367203.4:n.384+10C>T | |
| ENST00000382899.8:c.312+10C>T | ENSP00000372355.5:n.312+10C>T | |
| ENST00000475233.1:n.432+10C>T | ||
| ENST00000536777.5:c.312+10C>T | ENSP00000437405.2:n.312+10C>T | |
| ENST00000543216.5:c.312+10C>T | ENSP00000443078.2:n.312+10C>T | |
| ENST00000611820.4:c.312+10C>T | ENSP00000483595.1:n.312+10C>T | |
| ENST00000621147.4:c.384+10C>T | ENSP00000478793.1:n.384+10C>T | |
| NM_001291415.1:c.384+10C>T , LRG_616t1:c.384+10C>T | NP_001278344.1:n.384+10C>T | |
| NM_001291416.1:c.384+10C>T | NP_001278345.1:n.384+10C>T | |
| NM_001291417.1:c.384+10C>T | NP_001278346.1:n.384+10C>T | |
| NM_001291418.1:c.384+10C>T | NP_001278347.1:n.384+10C>T | |
| NM_001291421.1:c.-249+10C>T | NP_001278350.1:n.-249+10C>T | |
| NM_021140.3:c.384+10C>T | NP_066963.2:n.384+10C>T | |
| NR_111960.1:n.761+10C>T | ||
| XM_005272656.3:c.384+10C>T | XP_005272713.1:n.384+10C>T | |
| XM_005272659.3:c.384+10C>T | XP_005272716.1:n.384+10C>T | |
| XM_011543957.1:c.384+10C>T | XP_011542259.1:n.384+10C>T | |
| XM_011543958.1:c.384+10C>T | XP_011542260.1:n.384+10C>T | |
| XM_011543959.1:c.384+10C>T | XP_011542261.1:n.384+10C>T | |
| XM_011543960.1:c.384+10C>T | XP_011542262.1:n.384+10C>T | |
| XM_011543961.1:c.384+10C>T | XP_011542263.1:n.384+10C>T | |
| XM_011543962.1:c.384+10C>T | XP_011542264.1:n.384+10C>T | |
| XM_011543963.1:c.384+10C>T | XP_011542265.1:n.384+10C>T | |
| XM_011543964.1:c.384+10C>T | XP_011542266.1:n.384+10C>T | |
| XM_011543965.1:c.384+10C>T | XP_011542267.1:n.384+10C>T | |
| XM_011543966.1:c.384+10C>T | XP_011542268.1:n.384+10C>T | |
| XM_011543967.1:c.384+10C>T | XP_011542269.1:n.384+10C>T | |
| XM_011543968.1:c.384+10C>T | XP_011542270.1:n.384+10C>T | |
| XM_011543969.1:c.384+10C>T | XP_011542271.1:n.384+10C>T | |
| XM_011543970.1:c.384+10C>T | XP_011542272.1:n.384+10C>T | |
| XM_011543971.1:c.384+10C>T | XP_011542273.1:n.384+10C>T | |
| XM_011543972.1:c.384+10C>T | XP_011542274.1:n.384+10C>T | |
| XM_011543973.1:c.384+10C>T | XP_011542275.1:n.384+10C>T | |
| XM_011543974.1:c.384+10C>T | XP_011542276.1:n.384+10C>T | |
| XM_011543975.1:c.-249+10C>T | XP_011542277.1:n.-249+10C>T | |
| XM_011543976.1:c.384+10C>T | XP_011542278.1:n.384+10C>T | |
| XR_949018.1:n.761+10C>T | ||
| XM_005272656.5:c.384+10C>T | XP_005272713.1:n.384+10C>T | |
| XM_005272659.5:c.384+10C>T | XP_005272716.1:n.384+10C>T | |
| XM_011543958.3:c.384+10C>T | XP_011542260.1:n.384+10C>T | |
| XM_011543963.3:c.384+10C>T | XP_011542265.1:n.384+10C>T | |
| XM_011543964.3:c.384+10C>T | XP_011542266.1:n.384+10C>T | |
| XM_011543969.3:c.384+10C>T | XP_011542271.1:n.384+10C>T | |
| XM_011543970.3:c.384+10C>T | XP_011542272.1:n.384+10C>T | |
| XM_011543972.3:c.384+10C>T | XP_011542274.1:n.384+10C>T | |
| XM_011543974.2:c.384+10C>T | XP_011542276.1:n.384+10C>T | |
| XM_011543975.2:c.-249+10C>T | XP_011542277.1:n.-249+10C>T | |
| XM_017029783.2:c.384+10C>T | XP_016885272.1:n.384+10C>T | |
| XM_017029784.1:c.-249+10C>T | XP_016885273.1:n.-249+10C>T | |
| XM_017029785.1:c.-249+10C>T | XP_016885274.1:n.-249+10C>T | |
| XM_024452438.1:c.384+10C>T | XP_024308206.1:n.384+10C>T | |
| XM_024452439.1:c.-142+10C>T | XP_024308207.1:n.-142+10C>T | |
| XR_002958804.1:n.754+10C>T | ||
| NM_001291415.2:c.384+10C>T MANE Select | NP_001278344.1:n.384+10C>T | |
| NM_001291416.2:c.384+10C>T | NP_001278345.1:n.384+10C>T | |
| NM_001291417.2:c.384+10C>T | NP_001278346.1:n.384+10C>T | |
| NM_001291418.2:c.384+10C>T | NP_001278347.1:n.384+10C>T | |
| NM_001291421.2:c.-249+10C>T | NP_001278350.1:n.-249+10C>T | |
| NM_021140.4:c.384+10C>T | NP_066963.2:n.384+10C>T | |
| NR_111960.2:n.748+10C>T |