Linked Data
ClinVar Variation Id:
199028
dbSNP Id:
rs782508808
ExAC:
X:76939475 T / G
gnomAD v2:
X-76939475-T-G
gnomAD v4:
X-77683983-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683983T>G , CM000685.2:g.77683983T>G | GRCh38 |
| NC_000023.10:g.76939475T>G , CM000685.1:g.76939475T>G | GRCh37 |
| NC_000023.9:g.76826131T>G | NCBI36 |
| NG_008838.2:g.107239A>C | |
| NG_008838.3:g.107287A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1273A>C MANE Select | ENSP00000362441.4:p.Lys425Gln | |
| ENST00000373344.9:c.1273A>C | ENSP00000362441.4:p.Lys425Gln | |
| ENST00000395603.7:c.1159A>C | ENSP00000378967.3:p.Lys387Gln | |
| ENST00000480283.5:c.*901A>C | ENSP00000480196.1:n.*901A>C | |
| ENST00000623321.3:c.1108A>C | ENSP00000485127.1:p.Lys370Gln | |
| ENST00000624032.3:c.1273A>C | ENSP00000485253.1:p.Lys425Gln | |
| ENST00000624166.3:c.1156A>C | ENSP00000485103.1:p.Lys386Gln | |
| NM_000489.4:c.1273A>C | NP_000480.3:p.Lys425Gln | |
| NM_138270.3:c.1159A>C | NP_612114.2:p.Lys387Gln | |
| XM_005262153.3:c.1270A>C | XP_005262210.2:p.Lys424Gln | |
| XM_005262154.3:c.1273A>C | XP_005262211.2:p.Lys425Gln | |
| XM_005262155.3:c.1156A>C | XP_005262212.2:p.Lys386Gln | |
| XM_005262156.3:c.1108A>C | XP_005262213.2:p.Lys370Gln | |
| XM_005262157.3:c.1156A>C | XP_005262214.2:p.Lys386Gln | |
| XM_006724666.2:c.1156A>C | XP_006724729.1:p.Lys386Gln | |
| XM_006724667.2:c.994A>C | XP_006724730.1:p.Lys332Gln | |
| XM_006724668.2:c.1273A>C | XP_006724731.1:p.Lys425Gln | |
| XR_938400.1:n.1541A>C | ||
| NM_000489.5:c.1273A>C | NP_000480.3:p.Lys425Gln | |
| XM_005262153.5:c.1270A>C | XP_005262210.2:p.Lys424Gln | |
| XM_005262154.5:c.1273A>C | XP_005262211.2:p.Lys425Gln | |
| XM_005262155.4:c.1156A>C | XP_005262212.2:p.Lys386Gln | |
| XM_005262156.4:c.1108A>C | XP_005262213.2:p.Lys370Gln | |
| XM_005262157.5:c.1156A>C | XP_005262214.2:p.Lys386Gln | |
| XM_006724666.4:c.1156A>C | XP_006724729.1:p.Lys386Gln | |
| XM_006724667.3:c.994A>C | XP_006724730.1:p.Lys332Gln | |
| XM_006724668.3:c.1273A>C | XP_006724731.1:p.Lys425Gln | |
| XM_017029601.2:c.1270A>C | XP_016885090.1:p.Lys424Gln | |
| XM_017029602.1:c.1153A>C | XP_016885091.1:p.Lys385Gln | |
| XM_017029603.1:c.1105A>C | XP_016885092.1:p.Lys369Gln | |
| XM_017029604.2:c.1159A>C | XP_016885093.1:p.Lys387Gln | |
| XM_017029605.1:c.1156A>C | XP_016885094.1:p.Lys386Gln | |
| XM_017029606.2:c.1042A>C | XP_016885095.1:p.Lys348Gln | |
| XM_017029607.2:c.1039A>C | XP_016885096.1:p.Lys347Gln | |
| XM_017029608.2:c.991A>C | XP_016885097.1:p.Lys331Gln | |
| XM_017029609.1:c.1042A>C | XP_016885098.1:p.Lys348Gln | |
| XM_017029610.1:c.1039A>C | XP_016885099.1:p.Lys347Gln | |
| XM_017029611.1:c.994A>C | XP_016885100.1:p.Lys332Gln | |
| XR_001755700.2:n.1498A>C | ||
| NM_138270.4:c.1159A>C | NP_612114.2:p.Lys387Gln | |
| NM_000489.6:c.1273A>C MANE Select | NP_000480.3:p.Lys425Gln | |
| NM_138270.5:c.1159A>C | NP_612114.2:p.Lys387Gln |