Linked Data
dbSNP Id:
rs752508313
ExAC:
1:115256521 A / C
gnomAD v4:
1-114713900-A-C
COSMIC:
COSM1666991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713900A>C , CM000663.2:g.114713900A>C | GRCh38 |
| NC_000001.10:g.115256521A>C , CM000663.1:g.115256521A>C | GRCh37 |
| NC_000001.9:g.115058044A>C | NCBI36 |
| NG_007572.1:g.7995T>G , LRG_92:g.7995T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.190T>G MANE Select | ENSP00000358548.4:p.Tyr64Asp | |
| ENST00000369535.4:c.190T>G | ENSP00000358548.4:p.Tyr64Asp | |
| NM_002524.4:c.190T>G | NP_002515.1:p.Tyr64Asp | |
| NM_002524.5:c.190T>G MANE Select | NP_002515.1:p.Tyr64Asp |