Linked Data
ClinVar Variation Id:
93145
dbSNP Id:
rs142180002
ExAC:
X:76849308 A / T
gnomAD v2:
X-76849308-A-T
gnomAD v3:
X-77593838-A-T
gnomAD v4:
X-77593838-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77593838A>T , CM000685.2:g.77593838A>T | GRCh38 |
| NC_000023.10:g.76849308A>T , CM000685.1:g.76849308A>T | GRCh37 |
| NC_000023.9:g.76735964A>T | NCBI36 |
| NG_008838.2:g.197384T>A | |
| NG_008838.3:g.197432T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.5968T>A MANE Select | ENSP00000362441.4:p.Ser1990Thr | |
| ENST00000675732.1:c.1066T>A | ENSP00000502598.1:p.Ser356Thr | |
| ENST00000373344.9:c.5968T>A | ENSP00000362441.4:p.Ser1990Thr | |
| ENST00000395603.7:c.5854T>A | ENSP00000378967.3:p.Ser1952Thr | |
| ENST00000480283.5:c.*5596T>A | ENSP00000480196.1:n.*5596T>A | |
| ENST00000623316.1:c.452T>A | ||
| ENST00000623706.3:n.3038T>A | ||
| NM_000489.4:c.5968T>A | NP_000480.3:p.Ser1990Thr | |
| NM_138270.3:c.5854T>A | NP_612114.2:p.Ser1952Thr | |
| XM_005262153.3:c.5965T>A | XP_005262210.2:p.Ser1989Thr | |
| XM_005262154.3:c.5881T>A | XP_005262211.2:p.Ser1961Thr | |
| XM_005262155.3:c.5851T>A | XP_005262212.2:p.Ser1951Thr | |
| XM_005262156.3:c.5803T>A | XP_005262213.2:p.Ser1935Thr | |
| XM_005262157.3:c.5764T>A | XP_005262214.2:p.Ser1922Thr | |
| XM_006724666.2:c.5851T>A | XP_006724729.1:p.Ser1951Thr | |
| XM_006724667.2:c.5689T>A | XP_006724730.1:p.Ser1897Thr | |
| XR_938400.1:n.6310T>A | ||
| NM_000489.5:c.5968T>A | NP_000480.3:p.Ser1990Thr | |
| XM_005262153.5:c.5965T>A | XP_005262210.2:p.Ser1989Thr | |
| XM_005262154.5:c.5881T>A | XP_005262211.2:p.Ser1961Thr | |
| XM_005262155.4:c.5851T>A | XP_005262212.2:p.Ser1951Thr | |
| XM_005262156.4:c.5803T>A | XP_005262213.2:p.Ser1935Thr | |
| XM_005262157.5:c.5764T>A | XP_005262214.2:p.Ser1922Thr | |
| XM_006724666.4:c.5851T>A | XP_006724729.1:p.Ser1951Thr | |
| XM_006724667.3:c.5689T>A | XP_006724730.1:p.Ser1897Thr | |
| XM_017029601.2:c.5878T>A | XP_016885090.1:p.Ser1960Thr | |
| XM_017029602.1:c.5848T>A | XP_016885091.1:p.Ser1950Thr | |
| XM_017029603.1:c.5800T>A | XP_016885092.1:p.Ser1934Thr | |
| XM_017029604.2:c.5767T>A | XP_016885093.1:p.Ser1923Thr | |
| XM_017029605.1:c.5764T>A | XP_016885094.1:p.Ser1922Thr | |
| XM_017029606.2:c.5737T>A | XP_016885095.1:p.Ser1913Thr | |
| XM_017029607.2:c.5734T>A | XP_016885096.1:p.Ser1912Thr | |
| XM_017029608.2:c.5686T>A | XP_016885097.1:p.Ser1896Thr | |
| XM_017029609.1:c.5650T>A | XP_016885098.1:p.Ser1884Thr | |
| XM_017029610.1:c.5647T>A | XP_016885099.1:p.Ser1883Thr | |
| XM_017029611.1:c.5602T>A | XP_016885100.1:p.Ser1868Thr | |
| XR_001755700.2:n.6267T>A | ||
| NM_138270.4:c.5854T>A | NP_612114.2:p.Ser1952Thr | |
| NM_000489.6:c.5968T>A MANE Select | NP_000480.3:p.Ser1990Thr | |
| NM_138270.5:c.5854T>A | NP_612114.2:p.Ser1952Thr |