Linked Data
ClinVar Variation Id:
333889
ClinVar RCV Id:
RCV000375394
dbSNP Id:
rs886055530
gnomAD v4:
2-208304899-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208304899G>C , CM000664.2:g.208304899G>C | GRCh38 |
| NC_000002.11:g.209169623G>C , CM000664.1:g.209169623G>C | GRCh37 |
| NC_000002.10:g.208877868G>C | NCBI36 |
| NG_021188.1:g.43633G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.1522G>C MANE Select | ENSP00000264380.4:p.Asp508His | |
| ENST00000264380.8:c.1522G>C | ENSP00000264380.4:p.Asp508His | |
| ENST00000308862.10:c.1264G>C | ENSP00000308715.6:p.Asp422His | |
| ENST00000392202.7:c.1231G>C | ENSP00000376038.3:p.Asp411His | |
| ENST00000407449.5:c.1522G>C | ENSP00000384356.1:p.Asp508His | |
| ENST00000443896.5:c.*873G>C | ENSP00000407692.1:n.*873G>C | |
| ENST00000452564.1:c.1468+581G>C | ENSP00000405736.1:n.1468+581G>C | |
| NM_001178000.1:c.1522G>C | NP_001171471.1:p.Asp508His | |
| NM_015040.3:c.1522G>C | NP_055855.2:p.Asp508His | |
| NM_152671.3:c.1231G>C | NP_689884.1:p.Asp411His | |
| XM_011510778.1:c.1558G>C | XP_011509080.1:p.Asp520His | |
| XM_011510779.1:c.1558G>C | XP_011509081.1:p.Asp520His | |
| XM_011510780.1:c.1555G>C | XP_011509082.1:p.Asp519His | |
| XM_011510781.1:c.1540G>C | XP_011509083.1:p.Asp514His | |
| XM_011510782.1:c.1558G>C | XP_011509084.1:p.Asp520His | |
| XM_011510783.1:c.1504+581G>C | XP_011509085.1:n.1504+581G>C | |
| XM_011510784.1:c.1501+581G>C | XP_011509086.1:n.1501+581G>C | |
| XM_011510785.1:c.1486+599G>C | XP_011509087.1:n.1486+599G>C | |
| XM_011510786.1:c.1267G>C | XP_011509088.1:p.Asp423His | |
| XM_011510787.1:c.1264G>C | XP_011509089.1:p.Asp422His | |
| XM_011510788.1:c.1231G>C | XP_011509090.1:p.Asp411His | |
| XM_011510789.1:c.1081G>C | XP_011509091.1:p.Asp361His | |
| XM_011510790.1:c.565G>C | XP_011509092.1:p.Asp189His | |
| XM_011510791.1:c.565G>C | XP_011509093.1:p.Asp189His | |
| XM_011510792.1:c.1558G>C | XP_011509094.1:p.Asp520His | |
| XR_922888.1:n.1695G>C | ||
| XM_011510778.3:c.1558G>C | XP_011509080.1:p.Asp520His | |
| XM_011510779.2:c.1558G>C | XP_011509081.1:p.Asp520His | |
| XM_011510780.2:c.1555G>C | XP_011509082.1:p.Asp519His | |
| XM_011510781.3:c.1540G>C | XP_011509083.1:p.Asp514His | |
| XM_011510782.3:c.1558G>C | XP_011509084.1:p.Asp520His | |
| XM_011510783.3:c.1504+581G>C | XP_011509085.1:n.1504+581G>C | |
| XM_011510784.2:c.1501+581G>C | XP_011509086.1:n.1501+581G>C | |
| XM_011510785.3:c.1486+599G>C | XP_011509087.1:n.1486+599G>C | |
| XM_011510786.3:c.1267G>C | XP_011509088.1:p.Asp423His | |
| XM_011510789.2:c.1081G>C | XP_011509091.1:p.Asp361His | |
| XM_011510792.3:c.1558G>C | XP_011509094.1:p.Asp520His | |
| XM_017003568.1:c.1504G>C | XP_016859057.1:p.Asp502His | |
| XM_017003569.1:c.1450+599G>C | XP_016859058.1:n.1450+599G>C | |
| XM_017003570.1:c.1177+581G>C | XP_016859059.1:n.1177+581G>C | |
| XM_017003571.1:c.1027+581G>C | XP_016859060.1:n.1027+581G>C | |
| XM_017003572.1:c.565G>C | XP_016859061.1:p.Asp189His | |
| XM_017003573.1:c.565G>C | XP_016859062.1:p.Asp189His | |
| XM_017003574.1:c.565G>C | XP_016859063.1:p.Asp189His | |
| NM_015040.4:c.1522G>C MANE Select | NP_055855.2:p.Asp508His | |
| NM_001178000.2:c.1522G>C | NP_001171471.1:p.Asp508His | |
| NM_152671.4:c.1231G>C | NP_689884.1:p.Asp411His |