Linked Data
dbSNP Id:
rs747560976
ExAC:
17:64224201 C / G
gnomAD v2:
17-64224201-C-G
gnomAD v3:
17-66228083-C-G
gnomAD v4:
17-66228083-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228083C>G , CM000679.2:g.66228083C>G | GRCh38 |
| NC_000017.10:g.64224201C>G , CM000679.1:g.64224201C>G | GRCh37 |
| NC_000017.9:g.61654663C>G | NCBI36 |
| NG_012045.1:g.6356G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.178G>C MANE Select | ENSP00000205948.6:p.Gly60Arg | |
| ENST00000205948.10:c.178G>C | ENSP00000205948.6:p.Gly60Arg | |
| ENST00000577982.1:c.178G>C | ENSP00000464301.1:p.Gly60Arg | |
| ENST00000581797.5:c.-3G>C | ENSP00000463553.1:n.-3G>C | |
| NM_000042.2:c.178G>C | NP_000033.2:p.Gly60Arg | |
| NM_000042.3:c.178G>C MANE Select | NP_000033.2:p.Gly60Arg |