Linked Data
ClinVar Variation Id:
1565649
ClinVar RCV Id:
RCV002218419
dbSNP Id:
rs750588346
ExAC:
X:85218829 A / G
gnomAD v2:
X-85218829-A-G
gnomAD v3:
X-85963824-A-G
gnomAD v4:
X-85963824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85963824A>G , CM000685.2:g.85963824A>G | GRCh38 |
| NC_000023.10:g.85218829A>G , CM000685.1:g.85218829A>G | GRCh37 |
| NC_000023.9:g.85105485A>G | NCBI36 |
| NG_009874.2:g.88739T>C , LRG_699:g.88739T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.543T>C MANE Select | ENSP00000350386.2:p.His181= | |
| ENST00000357749.6:c.543T>C | ENSP00000350386.2:p.His181= | |
| ENST00000467744.2:n.126+63667T>C | ||
| NM_000390.2:c.543T>C , LRG_699t1:c.543T>C | NP_000381.1:p.His181= | |
| XM_006724615.2:c.480T>C | XP_006724678.1:p.His160= | |
| XM_011530839.1:c.99T>C | XP_011529141.1:p.His33= | |
| NM_000390.3:c.543T>C | NP_000381.1:p.His181= | |
| NM_001320959.1:c.99T>C | NP_001307888.1:p.His33= | |
| NM_001362517.1:c.99T>C | NP_001349446.1:p.His33= | |
| NM_001362518.1:c.99T>C | NP_001349447.1:p.His33= | |
| NM_001362519.1:c.99T>C | NP_001349448.1:p.His33= | |
| XM_017029242.2:c.543T>C | XP_016884731.1:p.His181= | |
| XM_017029246.1:c.99T>C | XP_016884735.1:p.His33= | |
| XM_024452331.1:c.99T>C | XP_024308099.1:p.His33= | |
| NM_000390.4:c.543T>C MANE Select | NP_000381.1:p.His181= | |
| NM_001362518.2:c.99T>C | NP_001349447.1:p.His33= |