Linked Data
ClinVar Variation Id:
445732
dbSNP Id:
rs1309299805
gnomAD v2:
X-76849151-T-C
gnomAD v3:
X-77593681-T-C
gnomAD v4:
X-77593681-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77593681T>C , CM000685.2:g.77593681T>C | GRCh38 |
| NC_000023.10:g.76849151T>C , CM000685.1:g.76849151T>C | GRCh37 |
| NC_000023.9:g.76735807T>C | NCBI36 |
| NG_008838.2:g.197541A>G | |
| NG_008838.3:g.197589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6110+15A>G MANE Select | ENSP00000362441.4:n.6110+15A>G | |
| ENST00000675732.1:c.1208+15A>G | ENSP00000502598.1:n.1208+15A>G | |
| ENST00000373344.9:c.6110+15A>G | ENSP00000362441.4:n.6110+15A>G | |
| ENST00000395603.7:c.5996+15A>G | ENSP00000378967.3:n.5996+15A>G | |
| ENST00000480283.5:c.*5738+15A>G | ENSP00000480196.1:n.*5738+15A>G | |
| ENST00000623316.1:c.594+15A>G | ||
| ENST00000623706.3:n.3180+15A>G | ||
| NM_000489.4:c.6110+15A>G | NP_000480.3:n.6110+15A>G | |
| NM_138270.3:c.5996+15A>G | NP_612114.2:n.5996+15A>G | |
| XM_005262153.3:c.6107+15A>G | XP_005262210.2:n.6107+15A>G | |
| XM_005262154.3:c.6023+15A>G | XP_005262211.2:n.6023+15A>G | |
| XM_005262155.3:c.5993+15A>G | XP_005262212.2:n.5993+15A>G | |
| XM_005262156.3:c.5945+15A>G | XP_005262213.2:n.5945+15A>G | |
| XM_005262157.3:c.5906+15A>G | XP_005262214.2:n.5906+15A>G | |
| XM_006724666.2:c.5993+15A>G | XP_006724729.1:n.5993+15A>G | |
| XM_006724667.2:c.5831+15A>G | XP_006724730.1:n.5831+15A>G | |
| XR_938400.1:n.6452+15A>G | ||
| NM_000489.5:c.6110+15A>G | NP_000480.3:n.6110+15A>G | |
| XM_005262153.5:c.6107+15A>G | XP_005262210.2:n.6107+15A>G | |
| XM_005262154.5:c.6023+15A>G | XP_005262211.2:n.6023+15A>G | |
| XM_005262155.4:c.5993+15A>G | XP_005262212.2:n.5993+15A>G | |
| XM_005262156.4:c.5945+15A>G | XP_005262213.2:n.5945+15A>G | |
| XM_005262157.5:c.5906+15A>G | XP_005262214.2:n.5906+15A>G | |
| XM_006724666.4:c.5993+15A>G | XP_006724729.1:n.5993+15A>G | |
| XM_006724667.3:c.5831+15A>G | XP_006724730.1:n.5831+15A>G | |
| XM_017029601.2:c.6020+15A>G | XP_016885090.1:n.6020+15A>G | |
| XM_017029602.1:c.5990+15A>G | XP_016885091.1:n.5990+15A>G | |
| XM_017029603.1:c.5942+15A>G | XP_016885092.1:n.5942+15A>G | |
| XM_017029604.2:c.5909+15A>G | XP_016885093.1:n.5909+15A>G | |
| XM_017029605.1:c.5906+15A>G | XP_016885094.1:n.5906+15A>G | |
| XM_017029606.2:c.5879+15A>G | XP_016885095.1:n.5879+15A>G | |
| XM_017029607.2:c.5876+15A>G | XP_016885096.1:n.5876+15A>G | |
| XM_017029608.2:c.5828+15A>G | XP_016885097.1:n.5828+15A>G | |
| XM_017029609.1:c.5792+15A>G | XP_016885098.1:n.5792+15A>G | |
| XM_017029610.1:c.5789+15A>G | XP_016885099.1:n.5789+15A>G | |
| XM_017029611.1:c.5744+15A>G | XP_016885100.1:n.5744+15A>G | |
| XR_001755700.2:n.6409+15A>G | ||
| NM_138270.4:c.5996+15A>G | NP_612114.2:n.5996+15A>G | |
| NM_000489.6:c.6110+15A>G MANE Select | NP_000480.3:n.6110+15A>G | |
| NM_138270.5:c.5996+15A>G | NP_612114.2:n.5996+15A>G |