Linked Data
dbSNP Id:
rs1414728992
gnomAD v3:
7-98187123-G-C
gnomAD v4:
7-98187123-G-C
COSMIC:
COSN20327871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98187123G>C , CM000669.2:g.98187123G>C | GRCh38 |
| NC_000007.13:g.97816435G>C , CM000669.1:g.97816435G>C | GRCh37 |
| NC_000007.12:g.97654371G>C | NCBI36 |
| NG_013375.1:g.85239G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.998+125G>C MANE Select | ENSP00000297293.5:n.998+125G>C | |
| ENST00000297293.5:c.998+125G>C | ENSP00000297293.5:n.998+125G>C | |
| NM_014916.3:c.998+125G>C | NP_055731.2:n.998+125G>C | |
| XM_011515981.1:c.992+125G>C | XP_011514283.1:n.992+125G>C | |
| XM_011515981.3:c.992+125G>C | XP_011514283.1:n.992+125G>C | |
| NM_014916.4:c.998+125G>C MANE Select | NP_055731.2:n.998+125G>C |