Linked Data
ClinVar Variation Id:
255991
dbSNP Id:
rs10217950
ExAC:
X:85219021 T / C
gnomAD v2:
X-85219021-T-C
gnomAD v3:
X-85964016-T-C
gnomAD v4:
X-85964016-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85964016T>C , CM000685.2:g.85964016T>C | GRCh38 |
| NC_000023.10:g.85219021T>C , CM000685.1:g.85219021T>C | GRCh37 |
| NC_000023.9:g.85105677T>C | NCBI36 |
| NG_009874.2:g.88547A>G , LRG_699:g.88547A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.351A>G MANE Select | ENSP00000350386.2:p.Ala117= | |
| ENST00000357749.6:c.351A>G | ENSP00000350386.2:p.Ala117= | |
| ENST00000467744.2:n.126+63475A>G | ||
| NM_000390.2:c.351A>G , LRG_699t1:c.351A>G | NP_000381.1:p.Ala117= | |
| XM_006724615.2:c.288A>G | XP_006724678.1:p.Ala96= | |
| XM_011530839.1:c.-94A>G | XP_011529141.1:n.-94A>G | |
| NM_000390.3:c.351A>G | NP_000381.1:p.Ala117= | |
| NM_001320959.1:c.-94A>G | NP_001307888.1:n.-94A>G | |
| NM_001362517.1:c.-94A>G | NP_001349446.1:n.-94A>G | |
| NM_001362518.1:c.-94A>G | NP_001349447.1:n.-94A>G | |
| NM_001362519.1:c.-94A>G | NP_001349448.1:n.-94A>G | |
| XM_017029242.2:c.351A>G | XP_016884731.1:p.Ala117= | |
| XM_017029246.1:c.-94A>G | XP_016884735.1:n.-94A>G | |
| XM_024452331.1:c.-94A>G | XP_024308099.1:n.-94A>G | |
| NM_000390.4:c.351A>G MANE Select | NP_000381.1:p.Ala117= | |
| NM_001362518.2:c.-94A>G | NP_001349447.1:n.-94A>G |