Linked Data
ClinVar Variation Id:
1921905
ClinVar RCV Id:
RCV002621476
dbSNP Id:
rs1005576952
gnomAD v2:
8-74893532-G-C
gnomAD v4:
8-73981297-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73981297G>C , CM000670.2:g.73981297G>C | GRCh38 |
| NC_000008.10:g.74893532G>C , CM000670.1:g.74893532G>C | GRCh37 |
| NC_000008.9:g.75056086G>C | NCBI36 |
| NG_016618.1:g.10156G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312184.6:c.459G>C MANE Select | ENSP00000312599.5:p.Val153= | |
| ENST00000312184.5:c.459G>C | ENSP00000312599.5:p.Val153= | |
| ENST00000416961.6:c.*216G>C | ENSP00000407695.2:n.*216G>C | |
| ENST00000517439.1:c.*149G>C | ENSP00000429467.1:n.*149G>C | |
| ENST00000519551.1:n.350G>C | ||
| NM_001040613.2:c.*149G>C | NP_001035703.1:n.*149G>C | |
| NM_017866.5:c.459G>C | NP_060336.3:p.Val153= | |
| NR_033334.1:n.692G>C | ||
| NM_017866.6:c.459G>C MANE Select | NP_060336.3:p.Val153= | |
| NM_001040613.3:c.*149G>C | NP_001035703.1:n.*149G>C | |
| NR_033334.2:n.639G>C |