Linked Data
ClinVar Variation Id:
465047
dbSNP Id:
rs782757975
ExAC:
X:76938052 G / A
gnomAD v2:
X-76938052-G-A
gnomAD v3:
X-77682560-G-A
gnomAD v4:
X-77682560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682560G>A , CM000685.2:g.77682560G>A | GRCh38 |
| NC_000023.10:g.76938052G>A , CM000685.1:g.76938052G>A | GRCh37 |
| NC_000023.9:g.76824708G>A | NCBI36 |
| NG_008838.2:g.108662C>T | |
| NG_008838.3:g.108710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2696C>T MANE Select | ENSP00000362441.4:p.Thr899Met | |
| ENST00000373344.9:c.2696C>T | ENSP00000362441.4:p.Thr899Met | |
| ENST00000395603.7:c.2582C>T | ENSP00000378967.3:p.Thr861Met | |
| ENST00000480283.5:c.*2324C>T | ENSP00000480196.1:n.*2324C>T | |
| ENST00000624032.3:c.2609C>T | ENSP00000485253.1:p.Thr870Met | |
| ENST00000624166.3:c.2492C>T | ENSP00000485103.1:p.Thr831Met | |
| NM_000489.4:c.2696C>T | NP_000480.3:p.Thr899Met | |
| NM_138270.3:c.2582C>T | NP_612114.2:p.Thr861Met | |
| XM_005262153.3:c.2693C>T | XP_005262210.2:p.Thr898Met | |
| XM_005262154.3:c.2609C>T | XP_005262211.2:p.Thr870Met | |
| XM_005262155.3:c.2579C>T | XP_005262212.2:p.Thr860Met | |
| XM_005262156.3:c.2531C>T | XP_005262213.2:p.Thr844Met | |
| XM_005262157.3:c.2492C>T | XP_005262214.2:p.Thr831Met | |
| XM_006724666.2:c.2579C>T | XP_006724729.1:p.Thr860Met | |
| XM_006724667.2:c.2417C>T | XP_006724730.1:p.Thr806Met | |
| XM_006724668.2:c.2696C>T | XP_006724731.1:p.Thr899Met | |
| XR_938400.1:n.2964C>T | ||
| NM_000489.5:c.2696C>T | NP_000480.3:p.Thr899Met | |
| XM_005262153.5:c.2693C>T | XP_005262210.2:p.Thr898Met | |
| XM_005262154.5:c.2609C>T | XP_005262211.2:p.Thr870Met | |
| XM_005262155.4:c.2579C>T | XP_005262212.2:p.Thr860Met | |
| XM_005262156.4:c.2531C>T | XP_005262213.2:p.Thr844Met | |
| XM_005262157.5:c.2492C>T | XP_005262214.2:p.Thr831Met | |
| XM_006724666.4:c.2579C>T | XP_006724729.1:p.Thr860Met | |
| XM_006724667.3:c.2417C>T | XP_006724730.1:p.Thr806Met | |
| XM_006724668.3:c.2696C>T | XP_006724731.1:p.Thr899Met | |
| XM_017029601.2:c.2606C>T | XP_016885090.1:p.Thr869Met | |
| XM_017029602.1:c.2576C>T | XP_016885091.1:p.Thr859Met | |
| XM_017029603.1:c.2528C>T | XP_016885092.1:p.Thr843Met | |
| XM_017029604.2:c.2495C>T | XP_016885093.1:p.Thr832Met | |
| XM_017029605.1:c.2492C>T | XP_016885094.1:p.Thr831Met | |
| XM_017029606.2:c.2465C>T | XP_016885095.1:p.Thr822Met | |
| XM_017029607.2:c.2462C>T | XP_016885096.1:p.Thr821Met | |
| XM_017029608.2:c.2414C>T | XP_016885097.1:p.Thr805Met | |
| XM_017029609.1:c.2378C>T | XP_016885098.1:p.Thr793Met | |
| XM_017029610.1:c.2375C>T | XP_016885099.1:p.Thr792Met | |
| XM_017029611.1:c.2330C>T | XP_016885100.1:p.Thr777Met | |
| XR_001755700.2:n.2921C>T | ||
| NM_138270.4:c.2582C>T | NP_612114.2:p.Thr861Met | |
| NM_000489.6:c.2696C>T MANE Select | NP_000480.3:p.Thr899Met | |
| NM_138270.5:c.2582C>T | NP_612114.2:p.Thr861Met |