Linked Data
dbSNP Id:
rs773366841
ExAC:
11:6340489 G / C
gnomAD v2:
11-6340489-G-C
gnomAD v3:
11-6319259-G-C
gnomAD v4:
11-6319259-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319259G>C , CM000673.2:g.6319259G>C | GRCh38 |
| NC_000011.9:g.6340489G>C , CM000673.1:g.6340489G>C | GRCh37 |
| NC_000011.8:g.6297065G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.690C>G MANE Select | ENSP00000307292.3:p.Pro230= | |
| ENST00000303927.3:c.690C>G | ENSP00000307292.3:p.Pro230= | |
| ENST00000524852.1:n.476C>G | ||
| ENST00000530979.1:c.786C>G | ENSP00000432047.1:p.Pro262= | |
| ENST00000532354.1:n.712C>G | ||
| NM_145040.2:c.690C>G | NP_659477.2:p.Pro230= | |
| XR_930997.1:n.720+1039G>C | ||
| XR_242848.4:n.119G>C | ||
| NM_145040.3:c.690C>G MANE Select | NP_659477.2:p.Pro230= |