Linked Data
ClinVar Variation Id:
875372
ClinVar RCV Id:
RCV001099160
dbSNP Id:
rs368681081
ExAC:
1:120269612 C / T
gnomAD v2:
1-120269612-C-T
gnomAD v3:
1-119726989-C-T
gnomAD v4:
1-119726989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726989C>T , CM000663.2:g.119726989C>T | GRCh38 |
| NC_000001.10:g.120269612C>T , CM000663.1:g.120269612C>T | GRCh37 |
| NC_000001.9:g.120071135C>T | NCBI36 |
| NG_009188.1:g.20194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.412-15C>T | ENSP00000358417.5:n.412-15C>T | |
| ENST00000462324.2:n.495-15C>T | ||
| ENST00000641023.2:c.412-15C>T MANE Select | ENSP00000493175.1:n.412-15C>T | |
| ENST00000641074.1:c.412-15C>T | ENSP00000493446.1:n.412-15C>T | |
| ENST00000641115.1:c.412-15C>T | ENSP00000493264.1:n.412-15C>T | |
| ENST00000641213.1:c.*65-15C>T | ENSP00000493079.1:n.*65-15C>T | |
| ENST00000641247.1:c.*131-15C>T | ENSP00000492955.1:n.*131-15C>T | |
| ENST00000641272.1:c.346-15C>T | ENSP00000493432.1:n.346-15C>T | |
| ENST00000641314.1:n.397-15C>T | ||
| ENST00000641371.1:c.326-15C>T | ENSP00000493305.1:n.326-15C>T | |
| ENST00000641375.1:c.*248-15C>T | ENSP00000493089.1:n.*248-15C>T | |
| ENST00000641491.1:c.*65-15C>T | ENSP00000493187.1:n.*65-15C>T | |
| ENST00000641570.1:c.*131-15C>T | ENSP00000493213.1:n.*131-15C>T | |
| ENST00000641573.1:n.500-15C>T | ||
| ENST00000641587.1:c.*123-15C>T | ENSP00000493453.1:n.*123-15C>T | |
| ENST00000641597.1:c.412-15C>T | ENSP00000493382.1:n.412-15C>T | |
| ENST00000641711.1:n.636-15C>T | ||
| ENST00000641756.1:c.*156-15C>T | ENSP00000493147.1:n.*156-15C>T | |
| ENST00000641811.1:c.168-15C>T | ||
| ENST00000641847.1:n.271-15C>T | ||
| ENST00000641891.1:c.*238-15C>T | ENSP00000493288.1:n.*238-15C>T | |
| ENST00000641927.1:n.352-15C>T | ||
| ENST00000641947.1:c.412-15C>T | ENSP00000492994.1:n.412-15C>T | |
| ENST00000642021.1:n.534-15C>T | ||
| ENST00000642041.1:c.*451-15C>T | ENSP00000493415.1:n.*451-15C>T | |
| ENST00000369407.3:c.310-15C>T | ENSP00000358415.3:n.310-15C>T | |
| ENST00000369409.8:c.412-15C>T | ENSP00000358417.4:n.412-15C>T | |
| ENST00000462324.1:n.680-15C>T | ||
| ENST00000493622.5:n.601-15C>T | ||
| NM_006623.3:c.412-15C>T | NP_006614.2:n.412-15C>T | |
| XM_011541226.1:c.634-15C>T | XP_011539528.1:n.634-15C>T | |
| XM_011541227.1:c.556-15C>T | XP_011539529.1:n.556-15C>T | |
| XM_011541228.1:c.523-15C>T | XP_011539530.1:n.523-15C>T | |
| XM_011541229.1:c.349-15C>T | XP_011539531.1:n.349-15C>T | |
| XM_011541230.1:c.127-15C>T | XP_011539532.1:n.127-15C>T | |
| XM_011541231.1:c.118-15C>T | XP_011539533.1:n.118-15C>T | |
| XM_011541226.2:c.634-15C>T | XP_011539528.1:n.634-15C>T | |
| XM_011541227.2:c.556-15C>T | XP_011539529.1:n.556-15C>T | |
| XM_011541228.2:c.523-15C>T | XP_011539530.1:n.523-15C>T | |
| XM_011541231.2:c.118-15C>T | XP_011539533.1:n.118-15C>T | |
| XM_024446338.1:c.523-15C>T | XP_024302106.1:n.523-15C>T | |
| NM_006623.4:c.412-15C>T MANE Select | NP_006614.2:n.412-15C>T |