Linked Data
dbSNP Id:
rs2130041624
COSMIC:
COSM403046
MyVariant Identifiers:
chr8:g.119122464C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110225C>G , CM000670.2:g.118110225C>G | GRCh38 |
| NC_000008.10:g.119122464C>G , CM000670.1:g.119122464C>G | GRCh37 |
| NC_000008.9:g.119191645C>G | NCBI36 |
| NG_007455.2:g.6595G>C , LRG_493:g.6595G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.822G>C MANE Select | ENSP00000367446.3:p.Gly274= | |
| ENST00000436216.2:c.190G>C | ||
| ENST00000378204.6:c.822G>C | ENSP00000367446.2:p.Gly274= | |
| ENST00000436216.1:c.190G>C | ||
| ENST00000437196.1:c.73+749G>C | ENSP00000407299.1:n.73+749G>C | |
| NM_000127.2:c.822G>C , LRG_493t1:c.822G>C | NP_000118.2:p.Gly274= | |
| NM_000127.3:c.822G>C MANE Select | NP_000118.2:p.Gly274= |