Linked Data
dbSNP Id:
rs1182188
gnomAD v2:
7-2869985-T-C
gnomAD v3:
7-2830351-T-C
gnomAD v4:
7-2830351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2830351T>C , CM000669.2:g.2830351T>C | GRCh38 |
| NC_000007.13:g.2869985T>C , CM000669.1:g.2869985T>C | GRCh37 |
| NC_000007.12:g.2836511T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275364.8:c.309+13502A>G MANE Select | ENSP00000275364.3:n.309+13502A>G | |
| ENST00000275364.7:c.309+13502A>G | ENSP00000275364.3:n.309+13502A>G | |
| NM_001293092.1:c.309+13502A>G | NP_001280021.1:n.309+13502A>G | |
| NM_007353.2:c.309+13502A>G | NP_031379.2:n.309+13502A>G | |
| XM_011515288.1:c.19-35208A>G | XP_011513590.1:n.19-35208A>G | |
| XM_011515288.3:c.19-35208A>G | XP_011513590.1:n.19-35208A>G | |
| NM_007353.3:c.309+13502A>G MANE Select | NP_031379.2:n.309+13502A>G | |
| NM_001293092.2:c.309+13502A>G | NP_001280021.1:n.309+13502A>G |