Linked Data
ClinVar Variation Id:
2182412
ClinVar RCV Id:
RCV002592001
dbSNP Id:
rs180177204
ExAC:
2:241808757 C / T
gnomAD v2:
2-241808757-C-T
gnomAD v3:
2-240869340-C-T
gnomAD v4:
2-240869340-C-T
COSMIC:
COSM3743720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869340C>T , CM000664.2:g.240869340C>T | GRCh38 |
| NC_000002.11:g.241808757C>T , CM000664.1:g.241808757C>T | GRCh37 |
| NC_000002.10:g.241457430C>T | NCBI36 |
| NG_008005.1:g.5596C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.336C>T MANE Select | ENSP00000302620.3:p.Ala112= | |
| ENST00000307503.3:c.336C>T | ENSP00000302620.3:p.Ala112= | |
| ENST00000472436.1:n.356C>T | ||
| NM_000030.2:c.336C>T | NP_000021.1:p.Ala112= | |
| XR_924060.1:n.405+893G>A | ||
| NM_000030.3:c.336C>T MANE Select | NP_000021.1:p.Ala112= |