Linked Data
dbSNP Id:
rs745649775
ExAC:
17:39739805 T / C
gnomAD v2:
17-39739805-T-C
gnomAD v3:
17-41583553-T-C
gnomAD v4:
17-41583553-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583553T>C , CM000679.2:g.41583553T>C | GRCh38 |
| NC_000017.10:g.39739805T>C , CM000679.1:g.39739805T>C | GRCh37 |
| NC_000017.9:g.36993331T>C | NCBI36 |
| NG_008624.1:g.8343A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1051A>G MANE Select | ENSP00000167586.6:p.Met351Val | |
| ENST00000167586.6:c.1051A>G | ENSP00000167586.6:p.Met351Val | |
| ENST00000476662.1:n.501A>G | ||
| NM_000526.4:c.1051A>G | NP_000517.2:p.Met351Val | |
| NM_000526.5:c.1051A>G MANE Select | NP_000517.3:p.Met351Val |