Linked Data
dbSNP Id:
rs12457997
gnomAD v2:
18-3415831-C-T
gnomAD v3:
18-3415833-C-T
gnomAD v4:
18-3415833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.3415833C>T , CM000680.2:g.3415833C>T | GRCh38 |
| NC_000018.9:g.3415831C>T , CM000680.1:g.3415831C>T | GRCh37 |
| NC_000018.8:g.3405831C>T | NCBI36 |
| NG_007447.1:g.8760C>T | |
| NG_007447.2:g.8760C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401449.5:c.-117-2310C>T | ENSP00000385206.1:n.-117-2310C>T | |
| ENST00000547233.1:n.52-2310C>T | ||
| ENST00000548489.6:c.-117-2310C>T | ENSP00000447747.2:n.-117-2310C>T | |
| ENST00000550958.5:c.-117-2310C>T | ENSP00000449531.1:n.-117-2310C>T | |
| ENST00000552383.5:c.-117-2310C>T | ENSP00000449287.1:n.-117-2310C>T | |
| NM_001278686.1:c.-117-2310C>T | NP_001265615.1:n.-117-2310C>T | |
| NM_174886.2:c.-117-2310C>T | NP_777480.1:n.-117-2310C>T | |
| NM_001278686.2:c.-117-2310C>T | NP_001265615.1:n.-117-2310C>T | |
| NM_174886.3:c.-117-2310C>T | NP_777480.1:n.-117-2310C>T | |
| NM_001278686.3:c.-117-2310C>T | NP_001265615.1:n.-117-2310C>T |