Linked Data
ClinVar Variation Id:
6537
ClinVar RCV Id:
RCV000006911
dbSNP Id:
rs113993963
gnomAD v4:
3-189789816-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189789816A>C , CM000665.2:g.189789816A>C | GRCh38 |
| NC_000003.11:g.189507605A>C , CM000665.1:g.189507605A>C | GRCh37 |
| NC_000003.10:g.190990299A>C | NCBI36 |
| NG_007550.1:g.163390A>C | |
| NG_007550.2:g.163390A>C | |
| NG_007550.3:g.198071A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.325-18456A>C MANE Select | ENSP00000264731.3:n.325-18456A>C | |
| ENST00000354600.10:c.16A>C MANE Plus Clinical | ENSP00000346614.5:p.Asn6His | |
| ENST00000264731.7:c.325-18456A>C | ENSP00000264731.3:n.325-18456A>C | |
| ENST00000320472.9:c.325-18456A>C | ENSP00000317510.5:n.325-18456A>C | |
| ENST00000354600.9:c.16A>C | ENSP00000346614.5:p.Asn6His | |
| ENST00000392460.7:c.325-18456A>C | ENSP00000376253.3:n.325-18456A>C | |
| ENST00000392461.7:c.16A>C | ENSP00000376254.3:p.Asn6His | |
| ENST00000392463.6:c.16A>C | ENSP00000376256.2:p.Asn6His | |
| ENST00000418709.6:c.325-18456A>C | ENSP00000407144.2:n.325-18456A>C | |
| ENST00000434928.5:c.16A>C | ENSP00000401661.1:p.Asn6His | |
| ENST00000437221.5:c.16A>C | ENSP00000392488.1:p.Asn6His | |
| ENST00000440651.6:c.325-18456A>C | ENSP00000394337.2:n.325-18456A>C | |
| ENST00000449992.5:c.16A>C | ENSP00000387839.1:p.Asn6His | |
| ENST00000456148.1:c.16A>C | ENSP00000389485.1:p.Asn6His | |
| ENST00000460036.1:n.122A>C | ||
| NM_001114978.1:c.325-18456A>C | NP_001108450.1:n.325-18456A>C | |
| NM_001114979.1:c.325-18456A>C | NP_001108451.1:n.325-18456A>C | |
| NM_001114980.1:c.16A>C | NP_001108452.1:p.Asn6His | |
| NM_001114981.1:c.16A>C | NP_001108453.1:p.Asn6His | |
| NM_001114982.1:c.16A>C | NP_001108454.1:p.Asn6His | |
| NM_003722.4:c.325-18456A>C | NP_003713.3:n.325-18456A>C | |
| XM_005247843.2:c.325-18456A>C | XP_005247900.1:n.325-18456A>C | |
| XM_005247844.3:c.274-18456A>C | XP_005247901.1:n.274-18456A>C | |
| XM_005247846.2:c.325-18456A>C | XP_005247903.1:n.325-18456A>C | |
| XM_011513251.1:c.322-18456A>C | XP_011511553.1:n.322-18456A>C | |
| XM_011513252.1:c.319-18456A>C | XP_011511554.1:n.319-18456A>C | |
| XM_011513253.1:c.286-18456A>C | XP_011511555.1:n.286-18456A>C | |
| NM_001329144.1:c.325-18456A>C | NP_001316073.1:n.325-18456A>C | |
| NM_001329145.1:c.16A>C | NP_001316074.1:p.Asn6His | |
| NM_001329146.1:c.16A>C | NP_001316075.1:p.Asn6His | |
| NM_001329148.1:c.325-18456A>C | NP_001316077.1:n.325-18456A>C | |
| NM_001329149.1:c.16A>C | NP_001316078.1:p.Asn6His | |
| NM_001329150.1:c.16A>C | NP_001316079.1:p.Asn6His | |
| NM_001329964.1:c.319-18456A>C | NP_001316893.1:n.319-18456A>C | |
| NM_003722.5:c.325-18456A>C MANE Select | NP_003713.3:n.325-18456A>C | |
| NM_001114978.2:c.325-18456A>C | NP_001108450.1:n.325-18456A>C | |
| NM_001114979.2:c.325-18456A>C | NP_001108451.1:n.325-18456A>C | |
| NM_001114980.2:c.16A>C MANE Plus Clinical | NP_001108452.1:p.Asn6His | |
| NM_001114981.2:c.16A>C | NP_001108453.1:p.Asn6His | |
| NM_001114982.2:c.16A>C | NP_001108454.1:p.Asn6His | |
| NM_001329144.2:c.325-18456A>C | NP_001316073.1:n.325-18456A>C | |
| NM_001329145.2:c.16A>C | NP_001316074.1:p.Asn6His | |
| NM_001329146.2:c.16A>C | NP_001316075.1:p.Asn6His | |
| NM_001329148.2:c.325-18456A>C | NP_001316077.1:n.325-18456A>C | |
| NM_001329149.2:c.16A>C | NP_001316078.1:p.Asn6His | |
| NM_001329150.2:c.16A>C | NP_001316079.1:p.Asn6His | |
| NM_001329964.2:c.319-18456A>C | NP_001316893.1:n.319-18456A>C |