Linked Data
ClinVar Variation Id:
2174884
ClinVar RCV Id:
RCV002599014
dbSNP Id:
rs780068171
ExAC:
1:11734879 G / A
gnomAD v2:
1-11734879-G-A
gnomAD v3:
1-11674822-G-A
gnomAD v4:
1-11674822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11674822G>A , CM000663.2:g.11674822G>A | GRCh38 |
| NC_000001.10:g.11734879G>A , CM000663.1:g.11734879G>A | GRCh37 |
| NC_000001.9:g.11657466G>A | NCBI36 |
| NG_052907.1:g.21967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376664.11:n.1024-6C>T | ||
| ENST00000456915.2:c.595-6C>T | ENSP00000400982.2:n.595-6C>T | |
| ENST00000697272.1:c.159-6C>T | ||
| ENST00000697273.1:c.*414-6C>T | ENSP00000513220.1:n.*414-6C>T | |
| ENST00000376692.9:c.595-6C>T MANE Select | ENSP00000365882.4:n.595-6C>T | |
| ENST00000235310.7:c.595-6C>T | ENSP00000235310.2:n.595-6C>T | |
| ENST00000376667.7:c.595-6C>T | ENSP00000365855.3:n.595-6C>T | |
| ENST00000376669.9:c.634-6C>T | ENSP00000365857.5:n.634-6C>T | |
| ENST00000376672.5:c.634-6C>T | ENSP00000365860.1:n.634-6C>T | |
| ENST00000376692.8:c.595-6C>T | ENSP00000365882.4:n.595-6C>T | |
| NM_001127325.1:c.595-6C>T | NP_001120797.1:n.595-6C>T | |
| NM_006341.3:c.595-6C>T | NP_006332.3:n.595-6C>T | |
| XM_011540507.1:c.595-6C>T | XP_011538809.1:n.595-6C>T | |
| XM_024450407.1:c.685-6C>T | XP_024306175.1:n.685-6C>T | |
| NM_006341.4:c.595-6C>T MANE Select | NP_006332.3:n.595-6C>T | |
| NM_001127325.2:c.595-6C>T | NP_001120797.1:n.595-6C>T |