Linked Data
dbSNP Id:
rs375474384
ExAC:
X:76845279 C / T
gnomAD v2:
X-76845279-C-T
gnomAD v3:
X-77589809-C-T
gnomAD v4:
X-77589809-C-T
COSMIC:
COSN8194563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77589809C>T , CM000685.2:g.77589809C>T | GRCh38 |
| NC_000023.10:g.76845279C>T , CM000685.1:g.76845279C>T | GRCh37 |
| NC_000023.9:g.76731935C>T | NCBI36 |
| NG_008838.2:g.201413G>A | |
| NG_008838.3:g.201461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6217+25G>A MANE Select | ENSP00000362441.4:n.6217+25G>A | |
| ENST00000636868.1:n.39+25G>A | ||
| ENST00000675732.1:c.1315+25G>A | ENSP00000502598.1:n.1315+25G>A | |
| ENST00000373344.9:c.6217+25G>A | ENSP00000362441.4:n.6217+25G>A | |
| ENST00000395603.7:c.6103+25G>A | ENSP00000378967.3:n.6103+25G>A | |
| ENST00000480283.5:c.*5845+25G>A | ENSP00000480196.1:n.*5845+25G>A | |
| ENST00000623316.1:c.701+25G>A | ||
| ENST00000623706.3:n.3287+25G>A | ||
| NM_000489.4:c.6217+25G>A | NP_000480.3:n.6217+25G>A | |
| NM_138270.3:c.6103+25G>A | NP_612114.2:n.6103+25G>A | |
| XM_005262153.3:c.6214+25G>A | XP_005262210.2:n.6214+25G>A | |
| XM_005262154.3:c.6130+25G>A | XP_005262211.2:n.6130+25G>A | |
| XM_005262155.3:c.6100+25G>A | XP_005262212.2:n.6100+25G>A | |
| XM_005262156.3:c.6052+25G>A | XP_005262213.2:n.6052+25G>A | |
| XM_005262157.3:c.6013+25G>A | XP_005262214.2:n.6013+25G>A | |
| XM_006724666.2:c.6100+25G>A | XP_006724729.1:n.6100+25G>A | |
| XM_006724667.2:c.5938+25G>A | XP_006724730.1:n.5938+25G>A | |
| XR_938400.1:n.6559+25G>A | ||
| NM_000489.5:c.6217+25G>A | NP_000480.3:n.6217+25G>A | |
| XM_005262153.5:c.6214+25G>A | XP_005262210.2:n.6214+25G>A | |
| XM_005262154.5:c.6130+25G>A | XP_005262211.2:n.6130+25G>A | |
| XM_005262155.4:c.6100+25G>A | XP_005262212.2:n.6100+25G>A | |
| XM_005262156.4:c.6052+25G>A | XP_005262213.2:n.6052+25G>A | |
| XM_005262157.5:c.6013+25G>A | XP_005262214.2:n.6013+25G>A | |
| XM_006724666.4:c.6100+25G>A | XP_006724729.1:n.6100+25G>A | |
| XM_006724667.3:c.5938+25G>A | XP_006724730.1:n.5938+25G>A | |
| XM_017029601.2:c.6127+25G>A | XP_016885090.1:n.6127+25G>A | |
| XM_017029602.1:c.6097+25G>A | XP_016885091.1:n.6097+25G>A | |
| XM_017029603.1:c.6049+25G>A | XP_016885092.1:n.6049+25G>A | |
| XM_017029604.2:c.6016+25G>A | XP_016885093.1:n.6016+25G>A | |
| XM_017029605.1:c.6013+25G>A | XP_016885094.1:n.6013+25G>A | |
| XM_017029606.2:c.5986+25G>A | XP_016885095.1:n.5986+25G>A | |
| XM_017029607.2:c.5983+25G>A | XP_016885096.1:n.5983+25G>A | |
| XM_017029608.2:c.5935+25G>A | XP_016885097.1:n.5935+25G>A | |
| XM_017029609.1:c.5899+25G>A | XP_016885098.1:n.5899+25G>A | |
| XM_017029610.1:c.5896+25G>A | XP_016885099.1:n.5896+25G>A | |
| XM_017029611.1:c.5851+25G>A | XP_016885100.1:n.5851+25G>A | |
| XR_001755700.2:n.6516+25G>A | ||
| NM_138270.4:c.6103+25G>A | NP_612114.2:n.6103+25G>A | |
| NM_000489.6:c.6217+25G>A MANE Select | NP_000480.3:n.6217+25G>A | |
| NM_138270.5:c.6103+25G>A | NP_612114.2:n.6103+25G>A |