Linked Data
ClinVar Variation Id:
371499
dbSNP Id:
rs375413604
gnomAD v2:
12-76740088-G-C
gnomAD v4:
12-76346308-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346308G>C , CM000674.2:g.76346308G>C | GRCh38 |
| NC_000012.11:g.76740088G>C , CM000674.1:g.76740088G>C | GRCh37 |
| NC_000012.10:g.75264219G>C | NCBI36 |
| NG_016357.1:g.7135C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1677C>G MANE Select | ENSP00000497413.1:p.Tyr559Ter | |
| ENST00000393262.3:c.1677C>G | ENSP00000376946.3:p.Tyr559Ter | |
| NM_024685.3:c.1677C>G | NP_078961.3:p.Tyr559Ter | |
| NM_024685.4:c.1677C>G MANE Select | NP_078961.3:p.Tyr559Ter |