Linked Data
dbSNP Id:
rs557341093
ExAC:
11:6340414 G / C
gnomAD v2:
11-6340414-G-C
gnomAD v3:
11-6319184-G-C
gnomAD v4:
11-6319184-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319184G>C , CM000673.2:g.6319184G>C | GRCh38 |
| NC_000011.9:g.6340414G>C , CM000673.1:g.6340414G>C | GRCh37 |
| NC_000011.8:g.6296990G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.765C>G MANE Select | ENSP00000307292.3:p.Leu255= | |
| ENST00000303927.3:c.765C>G | ENSP00000307292.3:p.Leu255= | |
| ENST00000524852.1:n.551C>G | ||
| ENST00000530979.1:c.861C>G | ENSP00000432047.1:p.Leu287= | |
| ENST00000532354.1:n.787C>G | ||
| NM_145040.2:c.765C>G | NP_659477.2:p.Leu255= | |
| XR_930997.1:n.720+964G>C | ||
| XR_242848.4:n.44G>C | ||
| NM_145040.3:c.765C>G MANE Select | NP_659477.2:p.Leu255= |