Linked Data
ClinVar Variation Id:
361380
ClinVar RCV Id:
RCV000324707
dbSNP Id:
rs377274495
ExAC:
8:10470335 T / G
gnomAD v2:
8-10470335-T-G
gnomAD v3:
8-10612825-T-G
gnomAD v4:
8-10612825-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612825T>G , CM000670.2:g.10612825T>G | GRCh38 |
| NC_000008.10:g.10470335T>G , CM000670.1:g.10470335T>G | GRCh37 |
| NC_000008.9:g.10507745T>G | NCBI36 |
| NG_028035.1:g.47283A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1273A>C MANE Select | ENSP00000371923.3:p.Arg425= | |
| ENST00000382483.3:c.1273A>C | ENSP00000371923.3:p.Arg425= | |
| NM_178857.5:c.1273A>C | NP_849188.4:p.Arg425= | |
| NM_178857.6:c.1273A>C MANE Select | NP_849188.4:p.Arg425= |