Linked Data
dbSNP Id:
rs372109248
ExAC:
11:5274465 A / G
gnomAD v2:
11-5274465-A-G
gnomAD v3:
11-5253235-A-G
gnomAD v4:
11-5253235-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253235A>G , CM000673.2:g.5253235A>G | GRCh38 |
| NC_000011.9:g.5274465A>G , CM000673.1:g.5274465A>G | GRCh37 |
| NC_000011.8:g.5231041A>G | NCBI36 |
| NG_000007.3:g.44381T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.*42T>C MANE Select | ENSP00000338082.4:n.*42T>C | |
| ENST00000380252.6:c.*42T>C | ENSP00000369602.2:n.*42T>C | |
| ENST00000642908.1:c.315+1057T>C | ENSP00000495346.1:n.315+1057T>C | |
| ENST00000647543.1:c.378+108T>C | ENSP00000496470.1:n.378+108T>C | |
| ENST00000336906.4:c.*42T>C | ENSP00000338082.4:n.*42T>C | |
| ENST00000380252.5:c.*42T>C | ENSP00000369602.1:n.*42T>C | |
| ENST00000380259.6:c.*42T>C | ENSP00000369609.2:n.*42T>C | |
| ENST00000620888.4:c.315+1057T>C | ENSP00000479637.1:n.315+1057T>C | |
| NM_000184.2:c.*42T>C | NP_000175.1:n.*42T>C | |
| NM_000184.3:c.*42T>C MANE Select | NP_000175.1:n.*42T>C |