Linked Data
dbSNP Id:
rs773587541
ExAC:
11:6340410 T / C
gnomAD v2:
11-6340410-T-C
gnomAD v4:
11-6319180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319180T>C , CM000673.2:g.6319180T>C | GRCh38 |
| NC_000011.9:g.6340410T>C , CM000673.1:g.6340410T>C | GRCh37 |
| NC_000011.8:g.6296986T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.769A>G MANE Select | ENSP00000307292.3:p.Met257Val | |
| ENST00000303927.3:c.769A>G | ENSP00000307292.3:p.Met257Val | |
| ENST00000524852.1:n.555A>G | ||
| ENST00000530979.1:c.865A>G | ENSP00000432047.1:p.Met289Val | |
| ENST00000532354.1:n.791A>G | ||
| NM_145040.2:c.769A>G | NP_659477.2:p.Met257Val | |
| XR_930997.1:n.720+960T>C | ||
| XR_242848.4:n.40T>C | ||
| NM_145040.3:c.769A>G MANE Select | NP_659477.2:p.Met257Val |