Linked Data
dbSNP Id:
rs3918226
gnomAD v2:
7-150690176-C-T
gnomAD v3:
7-150993088-C-T
gnomAD v4:
7-150993088-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150993088C>T , CM000669.2:g.150993088C>T | GRCh38 |
| NC_000007.13:g.150690176C>T , CM000669.1:g.150690176C>T | GRCh37 |
| NC_000007.12:g.150321109C>T | NCBI36 |
| NG_011992.1:g.7030C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297494.8:c.-51-665C>T MANE Select | ENSP00000297494.3:n.-51-665C>T | |
| ENST00000297494.7:c.-51-665C>T | ENSP00000297494.3:n.-51-665C>T | |
| ENST00000461406.5:c.-149+1788C>T | ENSP00000417143.1:n.-149+1788C>T | |
| NM_000603.4:c.-51-665C>T | NP_000594.2:n.-51-665C>T | |
| NM_000603.5:c.-51-665C>T MANE Select | NP_000594.2:n.-51-665C>T |