Linked Data
dbSNP Id:
rs58378809
ExAC:
17:39742645 G / C
gnomAD v2:
17-39742645-G-C
gnomAD v4:
17-41586393-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586393G>C , CM000679.2:g.41586393G>C | GRCh38 |
| NC_000017.10:g.39742645G>C , CM000679.1:g.39742645G>C | GRCh37 |
| NC_000017.9:g.36996171G>C | NCBI36 |
| NG_008624.1:g.5503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.442C>G MANE Select | ENSP00000167586.6:p.Arg148Gly | |
| ENST00000167586.6:c.442C>G | ENSP00000167586.6:p.Arg148Gly | |
| NM_000526.4:c.442C>G | NP_000517.2:p.Arg148Gly | |
| NM_000526.5:c.442C>G MANE Select | NP_000517.3:p.Arg148Gly |