Linked Data
dbSNP Id:
rs148345994
ExAC:
1:120269602 T / G
gnomAD v2:
1-120269602-T-G
gnomAD v3:
1-119726979-T-G
gnomAD v4:
1-119726979-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726979T>G , CM000663.2:g.119726979T>G | GRCh38 |
| NC_000001.10:g.120269602T>G , CM000663.1:g.120269602T>G | GRCh37 |
| NC_000001.9:g.120071125T>G | NCBI36 |
| NG_009188.1:g.20184T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.412-25T>G | ENSP00000358417.5:n.412-25T>G | |
| ENST00000462324.2:n.495-25T>G | ||
| ENST00000641023.2:c.412-25T>G MANE Select | ENSP00000493175.1:n.412-25T>G | |
| ENST00000641074.1:c.412-25T>G | ENSP00000493446.1:n.412-25T>G | |
| ENST00000641115.1:c.412-25T>G | ENSP00000493264.1:n.412-25T>G | |
| ENST00000641213.1:c.*65-25T>G | ENSP00000493079.1:n.*65-25T>G | |
| ENST00000641247.1:c.*131-25T>G | ENSP00000492955.1:n.*131-25T>G | |
| ENST00000641272.1:c.346-25T>G | ENSP00000493432.1:n.346-25T>G | |
| ENST00000641314.1:n.397-25T>G | ||
| ENST00000641371.1:c.326-25T>G | ENSP00000493305.1:n.326-25T>G | |
| ENST00000641375.1:c.*248-25T>G | ENSP00000493089.1:n.*248-25T>G | |
| ENST00000641491.1:c.*65-25T>G | ENSP00000493187.1:n.*65-25T>G | |
| ENST00000641570.1:c.*131-25T>G | ENSP00000493213.1:n.*131-25T>G | |
| ENST00000641573.1:n.500-25T>G | ||
| ENST00000641587.1:c.*123-25T>G | ENSP00000493453.1:n.*123-25T>G | |
| ENST00000641597.1:c.412-25T>G | ENSP00000493382.1:n.412-25T>G | |
| ENST00000641711.1:n.636-25T>G | ||
| ENST00000641756.1:c.*156-25T>G | ENSP00000493147.1:n.*156-25T>G | |
| ENST00000641811.1:c.168-25T>G | ||
| ENST00000641847.1:n.271-25T>G | ||
| ENST00000641891.1:c.*238-25T>G | ENSP00000493288.1:n.*238-25T>G | |
| ENST00000641927.1:n.352-25T>G | ||
| ENST00000641947.1:c.412-25T>G | ENSP00000492994.1:n.412-25T>G | |
| ENST00000642021.1:n.534-25T>G | ||
| ENST00000642041.1:c.*451-25T>G | ENSP00000493415.1:n.*451-25T>G | |
| ENST00000369407.3:c.310-25T>G | ENSP00000358415.3:n.310-25T>G | |
| ENST00000369409.8:c.412-25T>G | ENSP00000358417.4:n.412-25T>G | |
| ENST00000462324.1:n.680-25T>G | ||
| ENST00000493622.5:n.601-25T>G | ||
| NM_006623.3:c.412-25T>G | NP_006614.2:n.412-25T>G | |
| XM_011541226.1:c.634-25T>G | XP_011539528.1:n.634-25T>G | |
| XM_011541227.1:c.556-25T>G | XP_011539529.1:n.556-25T>G | |
| XM_011541228.1:c.523-25T>G | XP_011539530.1:n.523-25T>G | |
| XM_011541229.1:c.349-25T>G | XP_011539531.1:n.349-25T>G | |
| XM_011541230.1:c.127-25T>G | XP_011539532.1:n.127-25T>G | |
| XM_011541231.1:c.118-25T>G | XP_011539533.1:n.118-25T>G | |
| XM_011541226.2:c.634-25T>G | XP_011539528.1:n.634-25T>G | |
| XM_011541227.2:c.556-25T>G | XP_011539529.1:n.556-25T>G | |
| XM_011541228.2:c.523-25T>G | XP_011539530.1:n.523-25T>G | |
| XM_011541231.2:c.118-25T>G | XP_011539533.1:n.118-25T>G | |
| XM_024446338.1:c.523-25T>G | XP_024302106.1:n.523-25T>G | |
| NM_006623.4:c.412-25T>G MANE Select | NP_006614.2:n.412-25T>G |