Linked Data
ClinVar Variation Id:
335299
dbSNP Id:
rs886055842
gnomAD v2:
2-241817037-C-T
gnomAD v3:
2-240877620-C-T
gnomAD v4:
2-240877620-C-T
COSMIC:
COSM5791394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877620C>T , CM000664.2:g.240877620C>T | GRCh38 |
| NC_000002.11:g.241817037C>T , CM000664.1:g.241817037C>T | GRCh37 |
| NC_000002.10:g.241465710C>T | NCBI36 |
| NG_008005.1:g.13876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.930C>T MANE Select | ENSP00000302620.3:p.Phe310= | |
| ENST00000307503.3:c.930C>T | ENSP00000302620.3:p.Phe310= | |
| ENST00000470255.1:n.708C>T | ||
| NM_000030.2:c.930C>T | NP_000021.1:p.Phe310= | |
| NM_000030.3:c.930C>T MANE Select | NP_000021.1:p.Phe310= |