Linked Data
ClinVar Variation Id:
2803540
ClinVar RCV Id:
RCV003624866
dbSNP Id:
rs782743852
ExAC:
X:76829838 A / G
gnomAD v2:
X-76829838-A-G
gnomAD v4:
X-77574373-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77574373A>G , CM000685.2:g.77574373A>G | GRCh38 |
| NC_000023.10:g.76829838A>G , CM000685.1:g.76829838A>G | GRCh37 |
| NC_000023.9:g.76716494A>G | NCBI36 |
| NG_008838.2:g.216849T>C | |
| NG_008838.3:g.216897T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6218-15T>C MANE Select | ENSP00000362441.4:n.6218-15T>C | |
| ENST00000636152.1:n.53-15T>C | ||
| ENST00000675732.1:c.1316-15T>C | ENSP00000502598.1:n.1316-15T>C | |
| ENST00000373344.9:c.6218-15T>C | ENSP00000362441.4:n.6218-15T>C | |
| ENST00000395603.7:c.6104-15T>C | ENSP00000378967.3:n.6104-15T>C | |
| ENST00000480283.5:c.*5846-15T>C | ENSP00000480196.1:n.*5846-15T>C | |
| ENST00000623316.1:c.702-15T>C | ||
| ENST00000623706.3:n.3288-15T>C | ||
| NM_000489.4:c.6218-15T>C | NP_000480.3:n.6218-15T>C | |
| NM_138270.3:c.6104-15T>C | NP_612114.2:n.6104-15T>C | |
| XM_005262153.3:c.6215-15T>C | XP_005262210.2:n.6215-15T>C | |
| XM_005262154.3:c.6131-15T>C | XP_005262211.2:n.6131-15T>C | |
| XM_005262155.3:c.6101-15T>C | XP_005262212.2:n.6101-15T>C | |
| XM_005262156.3:c.6053-15T>C | XP_005262213.2:n.6053-15T>C | |
| XM_005262157.3:c.6014-15T>C | XP_005262214.2:n.6014-15T>C | |
| XM_006724666.2:c.6101-15T>C | XP_006724729.1:n.6101-15T>C | |
| XM_006724667.2:c.5939-15T>C | XP_006724730.1:n.5939-15T>C | |
| XR_938400.1:n.6560-15T>C | ||
| NM_000489.5:c.6218-15T>C | NP_000480.3:n.6218-15T>C | |
| XM_005262153.5:c.6215-15T>C | XP_005262210.2:n.6215-15T>C | |
| XM_005262154.5:c.6131-15T>C | XP_005262211.2:n.6131-15T>C | |
| XM_005262155.4:c.6101-15T>C | XP_005262212.2:n.6101-15T>C | |
| XM_005262156.4:c.6053-15T>C | XP_005262213.2:n.6053-15T>C | |
| XM_005262157.5:c.6014-15T>C | XP_005262214.2:n.6014-15T>C | |
| XM_006724666.4:c.6101-15T>C | XP_006724729.1:n.6101-15T>C | |
| XM_006724667.3:c.5939-15T>C | XP_006724730.1:n.5939-15T>C | |
| XM_017029601.2:c.6128-15T>C | XP_016885090.1:n.6128-15T>C | |
| XM_017029602.1:c.6098-15T>C | XP_016885091.1:n.6098-15T>C | |
| XM_017029603.1:c.6050-15T>C | XP_016885092.1:n.6050-15T>C | |
| XM_017029604.2:c.6017-15T>C | XP_016885093.1:n.6017-15T>C | |
| XM_017029605.1:c.6014-15T>C | XP_016885094.1:n.6014-15T>C | |
| XM_017029606.2:c.5987-15T>C | XP_016885095.1:n.5987-15T>C | |
| XM_017029607.2:c.5984-15T>C | XP_016885096.1:n.5984-15T>C | |
| XM_017029608.2:c.5936-15T>C | XP_016885097.1:n.5936-15T>C | |
| XM_017029609.1:c.5900-15T>C | XP_016885098.1:n.5900-15T>C | |
| XM_017029610.1:c.5897-15T>C | XP_016885099.1:n.5897-15T>C | |
| XM_017029611.1:c.5852-15T>C | XP_016885100.1:n.5852-15T>C | |
| XR_001755700.2:n.6517-15T>C | ||
| NM_138270.4:c.6104-15T>C | NP_612114.2:n.6104-15T>C | |
| NM_000489.6:c.6218-15T>C MANE Select | NP_000480.3:n.6218-15T>C | |
| NM_138270.5:c.6104-15T>C | NP_612114.2:n.6104-15T>C |