Linked Data
dbSNP Id:
rs762745490
ExAC:
6:31635807 C / T
gnomAD v2:
6-31635807-C-T
gnomAD v3:
6-31668030-C-T
gnomAD v4:
6-31668030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31668030C>T , CM000668.2:g.31668030C>T | GRCh38 |
| NC_000006.11:g.31635807C>T , CM000668.1:g.31635807C>T | GRCh37 |
| NC_000006.10:g.31743786C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375882.7:c.175+60C>T MANE Select | ENSP00000365042.3:n.175+60C>T | |
| ENST00000465481.6:n.368C>T | ||
| ENST00000475875.2:n.1318C>T | ||
| ENST00000677388.1:c.232+60C>T | ENSP00000504290.1:n.232+60C>T | |
| ENST00000677536.1:c.232+60C>T | ENSP00000502967.1:n.232+60C>T | |
| ENST00000677758.1:c.232+60C>T | ENSP00000504242.1:n.232+60C>T | |
| ENST00000375865.6:c.175+60C>T | ENSP00000365025.2:n.175+60C>T | |
| ENST00000375866.2:c.175+60C>T | ENSP00000365026.2:n.175+60C>T | |
| ENST00000375880.6:c.175+60C>T | ENSP00000365040.2:n.175+60C>T | |
| ENST00000375882.6:c.175+60C>T | ENSP00000365042.2:n.175+60C>T | |
| ENST00000375885.8:c.232+60C>T | ENSP00000365046.4:n.232+60C>T | |
| ENST00000465481.5:n.368C>T | ||
| ENST00000468255.5:n.314+60C>T | ||
| ENST00000481269.1:n.301+60C>T | ||
| ENST00000617558.2:c.175+60C>T | ENSP00000483989.2:n.175+60C>T | |
| NM_001282385.1:c.175+60C>T | NP_001269314.1:n.175+60C>T | |
| NM_001320.6:c.175+60C>T | NP_001311.3:n.175+60C>T | |
| NM_001320.7:c.175+60C>T MANE Select | NP_001311.3:n.175+60C>T | |
| NM_001282385.2:c.175+60C>T | NP_001269314.1:n.175+60C>T |