Linked Data
dbSNP Id:
rs1336030137
gnomAD v2:
11-6340540-C-A
gnomAD v3:
11-6319310-C-A
gnomAD v4:
11-6319310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319310C>A , CM000673.2:g.6319310C>A | GRCh38 |
| NC_000011.9:g.6340540C>A , CM000673.1:g.6340540C>A | GRCh37 |
| NC_000011.8:g.6297116C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.639G>T MANE Select | ENSP00000307292.3:p.Gly213= | |
| ENST00000303927.3:c.639G>T | ENSP00000307292.3:p.Gly213= | |
| ENST00000524852.1:n.425G>T | ||
| ENST00000530979.1:c.735G>T | ENSP00000432047.1:p.Gly245= | |
| ENST00000532354.1:n.661G>T | ||
| NM_145040.2:c.639G>T | NP_659477.2:p.Gly213= | |
| XR_930997.1:n.720+1090C>A | ||
| XR_242848.4:n.170C>A | ||
| NM_145040.3:c.639G>T MANE Select | NP_659477.2:p.Gly213= |