Linked Data
ClinVar Variation Id:
2863170
ClinVar RCV Id:
RCV003626039
dbSNP Id:
rs782297476
ExAC:
X:76845290 T / C
gnomAD v2:
X-76845290-T-C
gnomAD v3:
X-77589820-T-C
gnomAD v4:
X-77589820-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77589820T>C , CM000685.2:g.77589820T>C | GRCh38 |
| NC_000023.10:g.76845290T>C , CM000685.1:g.76845290T>C | GRCh37 |
| NC_000023.9:g.76731946T>C | NCBI36 |
| NG_008838.2:g.201402A>G | |
| NG_008838.3:g.201450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6217+14A>G MANE Select | ENSP00000362441.4:n.6217+14A>G | |
| ENST00000636868.1:n.39+14A>G | ||
| ENST00000675732.1:c.1315+14A>G | ENSP00000502598.1:n.1315+14A>G | |
| ENST00000373344.9:c.6217+14A>G | ENSP00000362441.4:n.6217+14A>G | |
| ENST00000395603.7:c.6103+14A>G | ENSP00000378967.3:n.6103+14A>G | |
| ENST00000480283.5:c.*5845+14A>G | ENSP00000480196.1:n.*5845+14A>G | |
| ENST00000623316.1:c.701+14A>G | ||
| ENST00000623706.3:n.3287+14A>G | ||
| NM_000489.4:c.6217+14A>G | NP_000480.3:n.6217+14A>G | |
| NM_138270.3:c.6103+14A>G | NP_612114.2:n.6103+14A>G | |
| XM_005262153.3:c.6214+14A>G | XP_005262210.2:n.6214+14A>G | |
| XM_005262154.3:c.6130+14A>G | XP_005262211.2:n.6130+14A>G | |
| XM_005262155.3:c.6100+14A>G | XP_005262212.2:n.6100+14A>G | |
| XM_005262156.3:c.6052+14A>G | XP_005262213.2:n.6052+14A>G | |
| XM_005262157.3:c.6013+14A>G | XP_005262214.2:n.6013+14A>G | |
| XM_006724666.2:c.6100+14A>G | XP_006724729.1:n.6100+14A>G | |
| XM_006724667.2:c.5938+14A>G | XP_006724730.1:n.5938+14A>G | |
| XR_938400.1:n.6559+14A>G | ||
| NM_000489.5:c.6217+14A>G | NP_000480.3:n.6217+14A>G | |
| XM_005262153.5:c.6214+14A>G | XP_005262210.2:n.6214+14A>G | |
| XM_005262154.5:c.6130+14A>G | XP_005262211.2:n.6130+14A>G | |
| XM_005262155.4:c.6100+14A>G | XP_005262212.2:n.6100+14A>G | |
| XM_005262156.4:c.6052+14A>G | XP_005262213.2:n.6052+14A>G | |
| XM_005262157.5:c.6013+14A>G | XP_005262214.2:n.6013+14A>G | |
| XM_006724666.4:c.6100+14A>G | XP_006724729.1:n.6100+14A>G | |
| XM_006724667.3:c.5938+14A>G | XP_006724730.1:n.5938+14A>G | |
| XM_017029601.2:c.6127+14A>G | XP_016885090.1:n.6127+14A>G | |
| XM_017029602.1:c.6097+14A>G | XP_016885091.1:n.6097+14A>G | |
| XM_017029603.1:c.6049+14A>G | XP_016885092.1:n.6049+14A>G | |
| XM_017029604.2:c.6016+14A>G | XP_016885093.1:n.6016+14A>G | |
| XM_017029605.1:c.6013+14A>G | XP_016885094.1:n.6013+14A>G | |
| XM_017029606.2:c.5986+14A>G | XP_016885095.1:n.5986+14A>G | |
| XM_017029607.2:c.5983+14A>G | XP_016885096.1:n.5983+14A>G | |
| XM_017029608.2:c.5935+14A>G | XP_016885097.1:n.5935+14A>G | |
| XM_017029609.1:c.5899+14A>G | XP_016885098.1:n.5899+14A>G | |
| XM_017029610.1:c.5896+14A>G | XP_016885099.1:n.5896+14A>G | |
| XM_017029611.1:c.5851+14A>G | XP_016885100.1:n.5851+14A>G | |
| XR_001755700.2:n.6516+14A>G | ||
| NM_138270.4:c.6103+14A>G | NP_612114.2:n.6103+14A>G | |
| NM_000489.6:c.6217+14A>G MANE Select | NP_000480.3:n.6217+14A>G | |
| NM_138270.5:c.6103+14A>G | NP_612114.2:n.6103+14A>G |