Linked Data
ClinVar Variation Id:
1604028
ClinVar RCV Id:
RCV002142358
dbSNP Id:
rs755515543
ExAC:
8:10480259 G / A
gnomAD v2:
8-10480259-G-A
gnomAD v3:
8-10622749-G-A
gnomAD v4:
8-10622749-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622749G>A , CM000670.2:g.10622749G>A | GRCh38 |
| NC_000008.10:g.10480259G>A , CM000670.1:g.10480259G>A | GRCh37 |
| NC_000008.9:g.10517669G>A | NCBI36 |
| NG_028035.1:g.37359C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.453C>T MANE Select | ENSP00000371923.3:p.Pro151= | |
| ENST00000329335.3:n.703C>T | ||
| ENST00000382483.3:c.453C>T | ENSP00000371923.3:p.Pro151= | |
| NM_178857.5:c.453C>T | NP_849188.4:p.Pro151= | |
| NM_178857.6:c.453C>T MANE Select | NP_849188.4:p.Pro151= |