Linked Data
dbSNP Id:
rs7961894
gnomAD v2:
12-122365583-C-T
gnomAD v3:
12-121927677-C-T
gnomAD v4:
12-121927677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121927677C>T , CM000674.2:g.121927677C>T | GRCh38 |
| NC_000012.11:g.122365583C>T , CM000674.1:g.122365583C>T | GRCh37 |
| NC_000012.10:g.120849966C>T | NCBI36 |
| NG_021364.1:g.14121C>T | |
| NG_021364.2:g.14121C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288912.9:c.747+3687C>T MANE Select | ENSP00000288912.4:n.747+3687C>T | |
| ENST00000288912.8:c.747+3687C>T | ENSP00000288912.4:n.747+3687C>T | |
| ENST00000397454.2:c.747+3687C>T | ENSP00000380595.2:n.747+3687C>T | |
| ENST00000540779.1:n.645+3687C>T | ||
| NM_001178003.1:c.747+3687C>T | NP_001171474.1:n.747+3687C>T | |
| NM_144668.5:c.747+3687C>T | NP_653269.3:n.747+3687C>T | |
| NM_144668.6:c.747+3687C>T MANE Select | NP_653269.3:n.747+3687C>T | |
| NM_001178003.2:c.747+3687C>T | NP_001171474.1:n.747+3687C>T |