Linked Data
dbSNP Id:
rs782327571
ExAC:
X:76829705 T / G
gnomAD v2:
X-76829705-T-G
gnomAD v4:
X-77574240-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77574240T>G , CM000685.2:g.77574240T>G | GRCh38 |
| NC_000023.10:g.76829705T>G , CM000685.1:g.76829705T>G | GRCh37 |
| NC_000023.9:g.76716361T>G | NCBI36 |
| NG_008838.2:g.216982A>C | |
| NG_008838.3:g.217030A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6326+10A>C MANE Select | ENSP00000362441.4:n.6326+10A>C | |
| ENST00000675732.1:c.1424+10A>C | ENSP00000502598.1:n.1424+10A>C | |
| ENST00000373344.9:c.6326+10A>C | ENSP00000362441.4:n.6326+10A>C | |
| ENST00000395603.7:c.6212+10A>C | ENSP00000378967.3:n.6212+10A>C | |
| ENST00000480283.5:c.*5954+10A>C | ENSP00000480196.1:n.*5954+10A>C | |
| ENST00000623706.3:n.3396+10A>C | ||
| NM_000489.4:c.6326+10A>C | NP_000480.3:n.6326+10A>C | |
| NM_138270.3:c.6212+10A>C | NP_612114.2:n.6212+10A>C | |
| XM_005262153.3:c.6323+10A>C | XP_005262210.2:n.6323+10A>C | |
| XM_005262154.3:c.6239+10A>C | XP_005262211.2:n.6239+10A>C | |
| XM_005262155.3:c.6209+10A>C | XP_005262212.2:n.6209+10A>C | |
| XM_005262156.3:c.6161+10A>C | XP_005262213.2:n.6161+10A>C | |
| XM_005262157.3:c.6122+10A>C | XP_005262214.2:n.6122+10A>C | |
| XM_006724666.2:c.6209+10A>C | XP_006724729.1:n.6209+10A>C | |
| XM_006724667.2:c.6047+10A>C | XP_006724730.1:n.6047+10A>C | |
| XR_938400.1:n.6668+10A>C | ||
| NM_000489.5:c.6326+10A>C | NP_000480.3:n.6326+10A>C | |
| XM_005262153.5:c.6323+10A>C | XP_005262210.2:n.6323+10A>C | |
| XM_005262154.5:c.6239+10A>C | XP_005262211.2:n.6239+10A>C | |
| XM_005262155.4:c.6209+10A>C | XP_005262212.2:n.6209+10A>C | |
| XM_005262156.4:c.6161+10A>C | XP_005262213.2:n.6161+10A>C | |
| XM_005262157.5:c.6122+10A>C | XP_005262214.2:n.6122+10A>C | |
| XM_006724666.4:c.6209+10A>C | XP_006724729.1:n.6209+10A>C | |
| XM_006724667.3:c.6047+10A>C | XP_006724730.1:n.6047+10A>C | |
| XM_017029601.2:c.6236+10A>C | XP_016885090.1:n.6236+10A>C | |
| XM_017029602.1:c.6206+10A>C | XP_016885091.1:n.6206+10A>C | |
| XM_017029603.1:c.6158+10A>C | XP_016885092.1:n.6158+10A>C | |
| XM_017029604.2:c.6125+10A>C | XP_016885093.1:n.6125+10A>C | |
| XM_017029605.1:c.6122+10A>C | XP_016885094.1:n.6122+10A>C | |
| XM_017029606.2:c.6095+10A>C | XP_016885095.1:n.6095+10A>C | |
| XM_017029607.2:c.6092+10A>C | XP_016885096.1:n.6092+10A>C | |
| XM_017029608.2:c.6044+10A>C | XP_016885097.1:n.6044+10A>C | |
| XM_017029609.1:c.6008+10A>C | XP_016885098.1:n.6008+10A>C | |
| XM_017029610.1:c.6005+10A>C | XP_016885099.1:n.6005+10A>C | |
| XM_017029611.1:c.5960+10A>C | XP_016885100.1:n.5960+10A>C | |
| XR_001755700.2:n.6625+10A>C | ||
| NM_138270.4:c.6212+10A>C | NP_612114.2:n.6212+10A>C | |
| NM_000489.6:c.6326+10A>C MANE Select | NP_000480.3:n.6326+10A>C | |
| NM_138270.5:c.6212+10A>C | NP_612114.2:n.6212+10A>C |