Linked Data
ClinVar Variation Id:
370512
dbSNP Id:
rs759682922
ExAC:
12:76740374 G / C
gnomAD v2:
12-76740374-G-C
gnomAD v4:
12-76346594-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346594G>C , CM000674.2:g.76346594G>C | GRCh38 |
| NC_000012.11:g.76740374G>C , CM000674.1:g.76740374G>C | GRCh37 |
| NC_000012.10:g.75264505G>C | NCBI36 |
| NG_016357.1:g.6849C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1391C>G MANE Select | ENSP00000497413.1:p.Ser464Ter | |
| ENST00000393262.3:c.1391C>G | ENSP00000376946.3:p.Ser464Ter | |
| NM_024685.3:c.1391C>G | NP_078961.3:p.Ser464Ter | |
| NM_024685.4:c.1391C>G MANE Select | NP_078961.3:p.Ser464Ter |