Linked Data
ClinVar Variation Id:
768718
ClinVar RCV Id:
RCV000947637
dbSNP Id:
rs2470890
gnomAD v3:
15-74755085-T-C
gnomAD v4:
15-74755085-T-C
MyVariant Identifiers:
chr15:g.74755085T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755085T>C , CM000677.2:g.74755085T>C | GRCh38 |
| NG_008431.2:g.37544T>C | |
| NG_061543.1:g.11241T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1548T>C MANE Select | ENSP00000342007.4:p.Asn516= | |
| ENST00000343932.4:c.1548T>C | ENSP00000342007.4:p.Asn516= | |
| NM_000761.4:c.1548T>C | NP_000752.2:p.Asn516= | |
| NM_000761.5:c.1548T>C MANE Select | NP_000752.2:p.Asn516= |