Linked Data
ClinVar Variation Id:
1667988
ClinVar RCV Id:
RCV002191521
dbSNP Id:
rs121908521
ExAC:
2:241808619 C / T
gnomAD v2:
2-241808619-C-T
gnomAD v3:
2-240869202-C-T
gnomAD v4:
2-240869202-C-T
COSMIC:
COSM6051629
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869202C>T , CM000664.2:g.240869202C>T | GRCh38 |
| NC_000002.11:g.241808619C>T , CM000664.1:g.241808619C>T | GRCh37 |
| NC_000002.10:g.241457292C>T | NCBI36 |
| NG_008005.1:g.5458C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.198C>T MANE Select | ENSP00000302620.3:p.Tyr66= | |
| ENST00000307503.3:c.198C>T | ENSP00000302620.3:p.Tyr66= | |
| ENST00000472436.1:n.218C>T | ||
| NM_000030.2:c.198C>T | NP_000021.1:p.Tyr66= | |
| XR_924060.1:n.405+1031G>A | ||
| NM_000030.3:c.198C>T MANE Select | NP_000021.1:p.Tyr66= |