Linked Data
ClinVar Variation Id:
380286
dbSNP Id:
rs149249195
ExAC:
X:76939715 C / T
gnomAD v2:
X-76939715-C-T
gnomAD v3:
X-77684223-C-T
gnomAD v4:
X-77684223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77684223C>T , CM000685.2:g.77684223C>T | GRCh38 |
| NC_000023.10:g.76939715C>T , CM000685.1:g.76939715C>T | GRCh37 |
| NC_000023.9:g.76826371C>T | NCBI36 |
| NG_008838.2:g.106999G>A | |
| NG_008838.3:g.107047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1033G>A MANE Select | ENSP00000362441.4:p.Ala345Thr | |
| ENST00000373344.9:c.1033G>A | ENSP00000362441.4:p.Ala345Thr | |
| ENST00000395603.7:c.919G>A | ENSP00000378967.3:p.Ala307Thr | |
| ENST00000480283.5:c.*661G>A | ENSP00000480196.1:n.*661G>A | |
| ENST00000623321.3:c.868G>A | ENSP00000485127.1:p.Ala290Thr | |
| ENST00000624032.3:c.1033G>A | ENSP00000485253.1:p.Ala345Thr | |
| ENST00000624166.3:c.916G>A | ENSP00000485103.1:p.Ala306Thr | |
| NM_000489.4:c.1033G>A | NP_000480.3:p.Ala345Thr | |
| NM_138270.3:c.919G>A | NP_612114.2:p.Ala307Thr | |
| XM_005262153.3:c.1030G>A | XP_005262210.2:p.Ala344Thr | |
| XM_005262154.3:c.1033G>A | XP_005262211.2:p.Ala345Thr | |
| XM_005262155.3:c.916G>A | XP_005262212.2:p.Ala306Thr | |
| XM_005262156.3:c.868G>A | XP_005262213.2:p.Ala290Thr | |
| XM_005262157.3:c.916G>A | XP_005262214.2:p.Ala306Thr | |
| XM_006724666.2:c.916G>A | XP_006724729.1:p.Ala306Thr | |
| XM_006724667.2:c.754G>A | XP_006724730.1:p.Ala252Thr | |
| XM_006724668.2:c.1033G>A | XP_006724731.1:p.Ala345Thr | |
| XR_938400.1:n.1301G>A | ||
| NM_000489.5:c.1033G>A | NP_000480.3:p.Ala345Thr | |
| XM_005262153.5:c.1030G>A | XP_005262210.2:p.Ala344Thr | |
| XM_005262154.5:c.1033G>A | XP_005262211.2:p.Ala345Thr | |
| XM_005262155.4:c.916G>A | XP_005262212.2:p.Ala306Thr | |
| XM_005262156.4:c.868G>A | XP_005262213.2:p.Ala290Thr | |
| XM_005262157.5:c.916G>A | XP_005262214.2:p.Ala306Thr | |
| XM_006724666.4:c.916G>A | XP_006724729.1:p.Ala306Thr | |
| XM_006724667.3:c.754G>A | XP_006724730.1:p.Ala252Thr | |
| XM_006724668.3:c.1033G>A | XP_006724731.1:p.Ala345Thr | |
| XM_017029601.2:c.1030G>A | XP_016885090.1:p.Ala344Thr | |
| XM_017029602.1:c.913G>A | XP_016885091.1:p.Ala305Thr | |
| XM_017029603.1:c.865G>A | XP_016885092.1:p.Ala289Thr | |
| XM_017029604.2:c.919G>A | XP_016885093.1:p.Ala307Thr | |
| XM_017029605.1:c.916G>A | XP_016885094.1:p.Ala306Thr | |
| XM_017029606.2:c.802G>A | XP_016885095.1:p.Ala268Thr | |
| XM_017029607.2:c.799G>A | XP_016885096.1:p.Ala267Thr | |
| XM_017029608.2:c.751G>A | XP_016885097.1:p.Ala251Thr | |
| XM_017029609.1:c.802G>A | XP_016885098.1:p.Ala268Thr | |
| XM_017029610.1:c.799G>A | XP_016885099.1:p.Ala267Thr | |
| XM_017029611.1:c.754G>A | XP_016885100.1:p.Ala252Thr | |
| XR_001755700.2:n.1258G>A | ||
| NM_138270.4:c.919G>A | NP_612114.2:p.Ala307Thr | |
| NM_000489.6:c.1033G>A MANE Select | NP_000480.3:p.Ala345Thr | |
| NM_138270.5:c.919G>A | NP_612114.2:p.Ala307Thr |