Linked Data
ClinVar Variation Id:
285021
dbSNP Id:
rs781984385
ExAC:
X:76909681 C / T
gnomAD v2:
X-76909681-C-T
gnomAD v3:
X-77654191-C-T
gnomAD v4:
X-77654191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77654191C>T , CM000685.2:g.77654191C>T | GRCh38 |
| NC_000023.10:g.76909681C>T , CM000685.1:g.76909681C>T | GRCh37 |
| NC_000023.9:g.76796337C>T | NCBI36 |
| NG_008838.2:g.137031G>A | |
| NG_008838.3:g.137079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4224G>A MANE Select | ENSP00000362441.4:p.Lys1408= | |
| ENST00000373344.9:c.4224G>A | ENSP00000362441.4:p.Lys1408= | |
| ENST00000395603.7:c.4110G>A | ENSP00000378967.3:p.Lys1370= | |
| ENST00000480283.5:c.*3852G>A | ENSP00000480196.1:n.*3852G>A | |
| ENST00000624166.3:c.4020G>A | ENSP00000485103.1:p.Lys1340= | |
| NM_000489.4:c.4224G>A | NP_000480.3:p.Lys1408= | |
| NM_138270.3:c.4110G>A | NP_612114.2:p.Lys1370= | |
| XM_005262153.3:c.4221G>A | XP_005262210.2:p.Lys1407= | |
| XM_005262154.3:c.4137G>A | XP_005262211.2:p.Lys1379= | |
| XM_005262155.3:c.4107G>A | XP_005262212.2:p.Lys1369= | |
| XM_005262156.3:c.4059G>A | XP_005262213.2:p.Lys1353= | |
| XM_005262157.3:c.4020G>A | XP_005262214.2:p.Lys1340= | |
| XM_006724666.2:c.4107G>A | XP_006724729.1:p.Lys1369= | |
| XM_006724667.2:c.3945G>A | XP_006724730.1:p.Lys1315= | |
| XM_006724668.2:c.4224G>A | XP_006724731.1:p.Lys1408= | |
| XR_938400.1:n.4492G>A | ||
| NM_000489.5:c.4224G>A | NP_000480.3:p.Lys1408= | |
| XM_005262153.5:c.4221G>A | XP_005262210.2:p.Lys1407= | |
| XM_005262154.5:c.4137G>A | XP_005262211.2:p.Lys1379= | |
| XM_005262155.4:c.4107G>A | XP_005262212.2:p.Lys1369= | |
| XM_005262156.4:c.4059G>A | XP_005262213.2:p.Lys1353= | |
| XM_005262157.5:c.4020G>A | XP_005262214.2:p.Lys1340= | |
| XM_006724666.4:c.4107G>A | XP_006724729.1:p.Lys1369= | |
| XM_006724667.3:c.3945G>A | XP_006724730.1:p.Lys1315= | |
| XM_006724668.3:c.4224G>A | XP_006724731.1:p.Lys1408= | |
| XM_017029601.2:c.4134G>A | XP_016885090.1:p.Lys1378= | |
| XM_017029602.1:c.4104G>A | XP_016885091.1:p.Lys1368= | |
| XM_017029603.1:c.4056G>A | XP_016885092.1:p.Lys1352= | |
| XM_017029604.2:c.4023G>A | XP_016885093.1:p.Lys1341= | |
| XM_017029605.1:c.4020G>A | XP_016885094.1:p.Lys1340= | |
| XM_017029606.2:c.3993G>A | XP_016885095.1:p.Lys1331= | |
| XM_017029607.2:c.3990G>A | XP_016885096.1:p.Lys1330= | |
| XM_017029608.2:c.3942G>A | XP_016885097.1:p.Lys1314= | |
| XM_017029609.1:c.3906G>A | XP_016885098.1:p.Lys1302= | |
| XM_017029610.1:c.3903G>A | XP_016885099.1:p.Lys1301= | |
| XM_017029611.1:c.3858G>A | XP_016885100.1:p.Lys1286= | |
| XR_001755700.2:n.4449G>A | ||
| NM_138270.4:c.4110G>A | NP_612114.2:p.Lys1370= | |
| NM_000489.6:c.4224G>A MANE Select | NP_000480.3:p.Lys1408= | |
| NM_138270.5:c.4110G>A | NP_612114.2:p.Lys1370= |