Linked Data
ClinVar Variation Id:
2040740
ClinVar RCV Id:
RCV002890761
dbSNP Id:
rs1651454984
gnomAD v4:
1-119726996-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726996G>T , CM000663.2:g.119726996G>T | GRCh38 |
| NC_000001.10:g.120269619G>T , CM000663.1:g.120269619G>T | GRCh37 |
| NC_000001.9:g.120071142G>T | NCBI36 |
| NG_009188.1:g.20201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.412-8G>T | ENSP00000358417.5:n.412-8G>T | |
| ENST00000462324.2:n.495-8G>T | ||
| ENST00000641023.2:c.412-8G>T MANE Select | ENSP00000493175.1:n.412-8G>T | |
| ENST00000641074.1:c.412-8G>T | ENSP00000493446.1:n.412-8G>T | |
| ENST00000641115.1:c.412-8G>T | ENSP00000493264.1:n.412-8G>T | |
| ENST00000641213.1:c.*65-8G>T | ENSP00000493079.1:n.*65-8G>T | |
| ENST00000641247.1:c.*131-8G>T | ENSP00000492955.1:n.*131-8G>T | |
| ENST00000641272.1:c.346-8G>T | ENSP00000493432.1:n.346-8G>T | |
| ENST00000641314.1:n.397-8G>T | ||
| ENST00000641371.1:c.326-8G>T | ENSP00000493305.1:n.326-8G>T | |
| ENST00000641375.1:c.*248-8G>T | ENSP00000493089.1:n.*248-8G>T | |
| ENST00000641491.1:c.*65-8G>T | ENSP00000493187.1:n.*65-8G>T | |
| ENST00000641570.1:c.*131-8G>T | ENSP00000493213.1:n.*131-8G>T | |
| ENST00000641573.1:n.500-8G>T | ||
| ENST00000641587.1:c.*123-8G>T | ENSP00000493453.1:n.*123-8G>T | |
| ENST00000641597.1:c.412-8G>T | ENSP00000493382.1:n.412-8G>T | |
| ENST00000641711.1:n.636-8G>T | ||
| ENST00000641756.1:c.*156-8G>T | ENSP00000493147.1:n.*156-8G>T | |
| ENST00000641811.1:c.168-8G>T | ||
| ENST00000641847.1:n.271-8G>T | ||
| ENST00000641891.1:c.*238-8G>T | ENSP00000493288.1:n.*238-8G>T | |
| ENST00000641927.1:n.352-8G>T | ||
| ENST00000641947.1:c.412-8G>T | ENSP00000492994.1:n.412-8G>T | |
| ENST00000642021.1:n.534-8G>T | ||
| ENST00000642041.1:c.*451-8G>T | ENSP00000493415.1:n.*451-8G>T | |
| ENST00000369407.3:c.310-8G>T | ENSP00000358415.3:n.310-8G>T | |
| ENST00000369409.8:c.412-8G>T | ENSP00000358417.4:n.412-8G>T | |
| ENST00000462324.1:n.680-8G>T | ||
| ENST00000493622.5:n.601-8G>T | ||
| NM_006623.3:c.412-8G>T | NP_006614.2:n.412-8G>T | |
| XM_011541226.1:c.634-8G>T | XP_011539528.1:n.634-8G>T | |
| XM_011541227.1:c.556-8G>T | XP_011539529.1:n.556-8G>T | |
| XM_011541228.1:c.523-8G>T | XP_011539530.1:n.523-8G>T | |
| XM_011541229.1:c.349-8G>T | XP_011539531.1:n.349-8G>T | |
| XM_011541230.1:c.127-8G>T | XP_011539532.1:n.127-8G>T | |
| XM_011541231.1:c.118-8G>T | XP_011539533.1:n.118-8G>T | |
| XM_011541226.2:c.634-8G>T | XP_011539528.1:n.634-8G>T | |
| XM_011541227.2:c.556-8G>T | XP_011539529.1:n.556-8G>T | |
| XM_011541228.2:c.523-8G>T | XP_011539530.1:n.523-8G>T | |
| XM_011541231.2:c.118-8G>T | XP_011539533.1:n.118-8G>T | |
| XM_024446338.1:c.523-8G>T | XP_024302106.1:n.523-8G>T | |
| NM_006623.4:c.412-8G>T MANE Select | NP_006614.2:n.412-8G>T |