Linked Data
dbSNP Id:
rs200698836
gnomAD v2:
11-113281217-T-A
gnomAD v3:
11-113410495-T-A
gnomAD v4:
11-113410495-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410495T>A , CM000673.2:g.113410495T>A | GRCh38 |
| NC_000011.9:g.113281217T>A , CM000673.1:g.113281217T>A | GRCh37 |
| NC_000011.8:g.112786427T>A | NCBI36 |
| NG_008841.1:g.69785A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.*232A>T MANE Select | ENSP00000354859.3:n.*232A>T | |
| ENST00000346454.7:c.*232A>T | ENSP00000278597.5:n.*232A>T | |
| ENST00000362072.7:c.*232A>T | ENSP00000354859.3:n.*232A>T | |
| ENST00000542968.5:c.*232A>T | ENSP00000442172.1:n.*232A>T | |
| ENST00000544518.5:c.*232A>T | ENSP00000441068.1:n.*232A>T | |
| NM_000795.3:c.*232A>T | NP_000786.1:n.*232A>T | |
| NM_016574.3:c.*232A>T | NP_057658.2:n.*232A>T | |
| XM_017017296.2:c.*232A>T | XP_016872785.1:n.*232A>T | |
| NM_000795.4:c.*232A>T MANE Select | NP_000786.1:n.*232A>T | |
| NM_016574.4:c.*232A>T | NP_057658.2:n.*232A>T |