Linked Data
dbSNP Id:
rs8058532
gnomAD v2:
16-83709666-C-T
gnomAD v3:
16-83676061-C-T
gnomAD v4:
16-83676061-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83676061C>T , CM000678.2:g.83676061C>T | GRCh38 |
| NC_000016.9:g.83709666C>T , CM000678.1:g.83709666C>T | GRCh37 |
| NC_000016.8:g.82267167C>T | NCBI36 |
| NG_052819.1:g.1054268C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.1285-2147C>T MANE Select | ENSP00000479395.1:n.1285-2147C>T | |
| ENST00000268613.14:c.1426-2147C>T | ENSP00000268613.10:n.1426-2147C>T | |
| ENST00000428848.7:c.1168-2147C>T | ENSP00000394557.3:n.1168-2147C>T | |
| ENST00000539548.6:c.*917-2147C>T | ENSP00000442225.2:n.*917-2147C>T | |
| ENST00000566620.5:c.1249-2147C>T | ENSP00000454435.3:n.1249-2147C>T | |
| ENST00000567109.5:c.1285-2147C>T | ENSP00000479395.1:n.1285-2147C>T | |
| ENST00000615627.1:c.205-2147C>T | ENSP00000482651.1:n.205-2147C>T | |
| ENST00000622885.4:c.1129-2147C>T | ENSP00000483719.1:n.1129-2147C>T | |
| NM_001220488.1:c.1426-2147C>T | NP_001207417.1:n.1426-2147C>T | |
| NM_001220489.1:c.1168-2147C>T | NP_001207418.1:n.1168-2147C>T | |
| NM_001220490.1:c.523-2147C>T | NP_001207419.1:n.523-2147C>T | |
| NM_001257.4:c.1285-2147C>T | NP_001248.1:n.1285-2147C>T | |
| XM_011522804.1:c.982-2147C>T | XP_011521106.1:n.982-2147C>T | |
| XM_011522804.3:c.982-2147C>T | XP_011521106.1:n.982-2147C>T | |
| XR_001752385.2:n.6466-8470G>A | ||
| NM_001257.5:c.1285-2147C>T MANE Select | NP_001248.1:n.1285-2147C>T | |
| NM_001220488.2:c.1426-2147C>T | NP_001207417.1:n.1426-2147C>T | |
| NM_001220489.2:c.1168-2147C>T | NP_001207418.1:n.1168-2147C>T | |
| NM_001220490.2:c.523-2147C>T | NP_001207419.1:n.523-2147C>T |