Linked Data
dbSNP Id:
rs763711752
ExAC:
17:39742864 T / C
gnomAD v2:
17-39742864-T-C
gnomAD v4:
17-41586612-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586612T>C , CM000679.2:g.41586612T>C | GRCh38 |
| NC_000017.10:g.39742864T>C , CM000679.1:g.39742864T>C | GRCh37 |
| NC_000017.9:g.36996390T>C | NCBI36 |
| NG_008624.1:g.5284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.223A>G MANE Select | ENSP00000167586.6:p.Ser75Gly | |
| ENST00000167586.6:c.223A>G | ENSP00000167586.6:p.Ser75Gly | |
| NM_000526.4:c.223A>G | NP_000517.2:p.Ser75Gly | |
| NM_000526.5:c.223A>G MANE Select | NP_000517.3:p.Ser75Gly |