Linked Data
ClinVar Variation Id:
1343860
ClinVar RCV Id:
RCV001847405
dbSNP Id:
rs182977390
ExAC:
17:18062622 G / C
gnomAD v2:
17-18062622-G-C
gnomAD v3:
17-18159308-G-C
gnomAD v4:
17-18159308-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159308G>C , CM000679.2:g.18159308G>C | GRCh38 |
| NC_000017.10:g.18062622G>C , CM000679.1:g.18062622G>C | GRCh37 |
| NC_000017.9:g.18003347G>C | NCBI36 |
| NG_011634.1:g.55603G>C | |
| NG_011634.2:g.55603G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1528G>C | ||
| ENST00000643693.1:n.992G>C | ||
| ENST00000644795.1:c.982G>C | ENSP00000495720.1:p.Asp328His | |
| ENST00000646782.1:n.1924G>C | ||
| ENST00000647165.2:c.9190G>C MANE Select | ENSP00000495481.1:p.Asp3064His | |
| ENST00000651214.1:n.1695G>C | ||
| ENST00000205890.9:c.9190G>C | ENSP00000205890.5:p.Asp3064His | |
| ENST00000418233.7:c.982G>C | ENSP00000408800.3:p.Asp328His | |
| ENST00000433411.7:n.127G>C | ||
| ENST00000445289.6:n.316+1408G>C | ||
| ENST00000556535.5:c.52G>C | ENSP00000451782.1:p.Asp18His | |
| ENST00000557190.5:n.92G>C | ||
| ENST00000557655.5:c.52G>C | ENSP00000451925.1:p.Asp18His | |
| ENST00000578472.5:c.52G>C | ENSP00000467989.1:p.Asp18His | |
| ENST00000615845.4:c.9190G>C | ENSP00000481642.1:p.Asp3064His | |
| NM_016239.3:c.9190G>C | NP_057323.3:p.Asp3064His | |
| XM_011523921.1:c.9184G>C | XP_011522223.1:p.Asp3062His | |
| XM_017024714.2:c.9130G>C | XP_016880203.1:p.Asp3044His | |
| XM_017024715.2:c.9193G>C | XP_016880204.1:p.Asp3065His | |
| NM_016239.4:c.9190G>C MANE Select | NP_057323.3:p.Asp3064His |