Linked Data
ClinVar Variation Id:
210494
dbSNP Id:
rs797045405
gnomAD v2:
X-76938226-A-G
gnomAD v4:
X-77682734-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682734A>G , CM000685.2:g.77682734A>G | GRCh38 |
| NC_000023.10:g.76938226A>G , CM000685.1:g.76938226A>G | GRCh37 |
| NC_000023.9:g.76824882A>G | NCBI36 |
| NG_008838.2:g.108488T>C | |
| NG_008838.3:g.108536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2522T>C MANE Select | ENSP00000362441.4:p.Ile841Thr | |
| ENST00000373344.9:c.2522T>C | ENSP00000362441.4:p.Ile841Thr | |
| ENST00000395603.7:c.2408T>C | ENSP00000378967.3:p.Ile803Thr | |
| ENST00000480283.5:c.*2150T>C | ENSP00000480196.1:n.*2150T>C | |
| ENST00000624032.3:c.2435T>C | ENSP00000485253.1:p.Ile812Thr | |
| ENST00000624166.3:c.2318T>C | ENSP00000485103.1:p.Ile773Thr | |
| NM_000489.4:c.2522T>C | NP_000480.3:p.Ile841Thr | |
| NM_138270.3:c.2408T>C | NP_612114.2:p.Ile803Thr | |
| XM_005262153.3:c.2519T>C | XP_005262210.2:p.Ile840Thr | |
| XM_005262154.3:c.2435T>C | XP_005262211.2:p.Ile812Thr | |
| XM_005262155.3:c.2405T>C | XP_005262212.2:p.Ile802Thr | |
| XM_005262156.3:c.2357T>C | XP_005262213.2:p.Ile786Thr | |
| XM_005262157.3:c.2318T>C | XP_005262214.2:p.Ile773Thr | |
| XM_006724666.2:c.2405T>C | XP_006724729.1:p.Ile802Thr | |
| XM_006724667.2:c.2243T>C | XP_006724730.1:p.Ile748Thr | |
| XM_006724668.2:c.2522T>C | XP_006724731.1:p.Ile841Thr | |
| XR_938400.1:n.2790T>C | ||
| NM_000489.5:c.2522T>C | NP_000480.3:p.Ile841Thr | |
| XM_005262153.5:c.2519T>C | XP_005262210.2:p.Ile840Thr | |
| XM_005262154.5:c.2435T>C | XP_005262211.2:p.Ile812Thr | |
| XM_005262155.4:c.2405T>C | XP_005262212.2:p.Ile802Thr | |
| XM_005262156.4:c.2357T>C | XP_005262213.2:p.Ile786Thr | |
| XM_005262157.5:c.2318T>C | XP_005262214.2:p.Ile773Thr | |
| XM_006724666.4:c.2405T>C | XP_006724729.1:p.Ile802Thr | |
| XM_006724667.3:c.2243T>C | XP_006724730.1:p.Ile748Thr | |
| XM_006724668.3:c.2522T>C | XP_006724731.1:p.Ile841Thr | |
| XM_017029601.2:c.2432T>C | XP_016885090.1:p.Ile811Thr | |
| XM_017029602.1:c.2402T>C | XP_016885091.1:p.Ile801Thr | |
| XM_017029603.1:c.2354T>C | XP_016885092.1:p.Ile785Thr | |
| XM_017029604.2:c.2321T>C | XP_016885093.1:p.Ile774Thr | |
| XM_017029605.1:c.2318T>C | XP_016885094.1:p.Ile773Thr | |
| XM_017029606.2:c.2291T>C | XP_016885095.1:p.Ile764Thr | |
| XM_017029607.2:c.2288T>C | XP_016885096.1:p.Ile763Thr | |
| XM_017029608.2:c.2240T>C | XP_016885097.1:p.Ile747Thr | |
| XM_017029609.1:c.2204T>C | XP_016885098.1:p.Ile735Thr | |
| XM_017029610.1:c.2201T>C | XP_016885099.1:p.Ile734Thr | |
| XM_017029611.1:c.2156T>C | XP_016885100.1:p.Ile719Thr | |
| XR_001755700.2:n.2747T>C | ||
| NM_138270.4:c.2408T>C | NP_612114.2:p.Ile803Thr | |
| NM_000489.6:c.2522T>C MANE Select | NP_000480.3:p.Ile841Thr | |
| NM_138270.5:c.2408T>C | NP_612114.2:p.Ile803Thr |