Linked Data
ClinVar Variation Id:
128492
dbSNP Id:
rs587780285
ExAC:
X:76937353 A / G
gnomAD v2:
X-76937353-A-G
gnomAD v3:
X-77681861-A-G
gnomAD v4:
X-77681861-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77681861A>G , CM000685.2:g.77681861A>G | GRCh38 |
| NC_000023.10:g.76937353A>G , CM000685.1:g.76937353A>G | GRCh37 |
| NC_000023.9:g.76824009A>G | NCBI36 |
| NG_008838.2:g.109361T>C | |
| NG_008838.3:g.109409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3395T>C MANE Select | ENSP00000362441.4:p.Ile1132Thr | |
| ENST00000373344.9:c.3395T>C | ENSP00000362441.4:p.Ile1132Thr | |
| ENST00000395603.7:c.3281T>C | ENSP00000378967.3:p.Ile1094Thr | |
| ENST00000480283.5:c.*3023T>C | ENSP00000480196.1:n.*3023T>C | |
| ENST00000493470.2:c.281T>C | ENSP00000485408.1:p.Ile94Thr | |
| ENST00000624166.3:c.3191T>C | ENSP00000485103.1:p.Ile1064Thr | |
| NM_000489.4:c.3395T>C | NP_000480.3:p.Ile1132Thr | |
| NM_138270.3:c.3281T>C | NP_612114.2:p.Ile1094Thr | |
| XM_005262153.3:c.3392T>C | XP_005262210.2:p.Ile1131Thr | |
| XM_005262154.3:c.3308T>C | XP_005262211.2:p.Ile1103Thr | |
| XM_005262155.3:c.3278T>C | XP_005262212.2:p.Ile1093Thr | |
| XM_005262156.3:c.3230T>C | XP_005262213.2:p.Ile1077Thr | |
| XM_005262157.3:c.3191T>C | XP_005262214.2:p.Ile1064Thr | |
| XM_006724666.2:c.3278T>C | XP_006724729.1:p.Ile1093Thr | |
| XM_006724667.2:c.3116T>C | XP_006724730.1:p.Ile1039Thr | |
| XM_006724668.2:c.3395T>C | XP_006724731.1:p.Ile1132Thr | |
| XR_938400.1:n.3663T>C | ||
| NM_000489.5:c.3395T>C | NP_000480.3:p.Ile1132Thr | |
| XM_005262153.5:c.3392T>C | XP_005262210.2:p.Ile1131Thr | |
| XM_005262154.5:c.3308T>C | XP_005262211.2:p.Ile1103Thr | |
| XM_005262155.4:c.3278T>C | XP_005262212.2:p.Ile1093Thr | |
| XM_005262156.4:c.3230T>C | XP_005262213.2:p.Ile1077Thr | |
| XM_005262157.5:c.3191T>C | XP_005262214.2:p.Ile1064Thr | |
| XM_006724666.4:c.3278T>C | XP_006724729.1:p.Ile1093Thr | |
| XM_006724667.3:c.3116T>C | XP_006724730.1:p.Ile1039Thr | |
| XM_006724668.3:c.3395T>C | XP_006724731.1:p.Ile1132Thr | |
| XM_017029601.2:c.3305T>C | XP_016885090.1:p.Ile1102Thr | |
| XM_017029602.1:c.3275T>C | XP_016885091.1:p.Ile1092Thr | |
| XM_017029603.1:c.3227T>C | XP_016885092.1:p.Ile1076Thr | |
| XM_017029604.2:c.3194T>C | XP_016885093.1:p.Ile1065Thr | |
| XM_017029605.1:c.3191T>C | XP_016885094.1:p.Ile1064Thr | |
| XM_017029606.2:c.3164T>C | XP_016885095.1:p.Ile1055Thr | |
| XM_017029607.2:c.3161T>C | XP_016885096.1:p.Ile1054Thr | |
| XM_017029608.2:c.3113T>C | XP_016885097.1:p.Ile1038Thr | |
| XM_017029609.1:c.3077T>C | XP_016885098.1:p.Ile1026Thr | |
| XM_017029610.1:c.3074T>C | XP_016885099.1:p.Ile1025Thr | |
| XM_017029611.1:c.3029T>C | XP_016885100.1:p.Ile1010Thr | |
| XR_001755700.2:n.3620T>C | ||
| NM_138270.4:c.3281T>C | NP_612114.2:p.Ile1094Thr | |
| NM_000489.6:c.3395T>C MANE Select | NP_000480.3:p.Ile1132Thr | |
| NM_138270.5:c.3281T>C | NP_612114.2:p.Ile1094Thr |