Linked Data
dbSNP Id:
rs375177537
ExAC:
11:5274477 C / A
gnomAD v2:
11-5274477-C-A
gnomAD v3:
11-5253247-C-A
gnomAD v4:
11-5253247-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253247C>A , CM000673.2:g.5253247C>A | GRCh38 |
| NC_000011.9:g.5274477C>A , CM000673.1:g.5274477C>A | GRCh37 |
| NC_000011.8:g.5231053C>A | NCBI36 |
| NG_000007.3:g.44369G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.*30G>T MANE Select | ENSP00000338082.4:n.*30G>T | |
| ENST00000380252.6:c.*30G>T | ENSP00000369602.2:n.*30G>T | |
| ENST00000642908.1:c.315+1045G>T | ENSP00000495346.1:n.315+1045G>T | |
| ENST00000647543.1:c.378+96G>T | ENSP00000496470.1:n.378+96G>T | |
| ENST00000336906.4:c.*30G>T | ENSP00000338082.4:n.*30G>T | |
| ENST00000380252.5:c.*30G>T | ENSP00000369602.1:n.*30G>T | |
| ENST00000380259.6:c.*30G>T | ENSP00000369609.2:n.*30G>T | |
| ENST00000620888.4:c.315+1045G>T | ENSP00000479637.1:n.315+1045G>T | |
| NM_000184.2:c.*30G>T | NP_000175.1:n.*30G>T | |
| NM_000184.3:c.*30G>T MANE Select | NP_000175.1:n.*30G>T |