Linked Data
ClinVar Variation Id:
2054487
ClinVar RCV Id:
RCV002928032
dbSNP Id:
rs1180294402
gnomAD v2:
9-80919792-C-T
gnomAD v3:
9-78304876-C-T
gnomAD v4:
9-78304876-C-T
COSMIC:
COSM5977315
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304876C>T , CM000671.2:g.78304876C>T | GRCh38 |
| NC_000009.11:g.80919792C>T , CM000671.1:g.80919792C>T | GRCh37 |
| NC_000009.10:g.80109612C>T | NCBI36 |
| NG_012165.1:g.12734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.333C>T MANE Select | ENSP00000365773.3:p.Ala111= | |
| ENST00000347159.6:c.333C>T | ENSP00000317606.2:p.Ala111= | |
| ENST00000376588.3:c.333C>T | ENSP00000365773.3:p.Ala111= | |
| NM_021154.4:c.333C>T | NP_066977.1:p.Ala111= | |
| NM_058179.3:c.333C>T | NP_478059.1:p.Ala111= | |
| NM_058179.4:c.333C>T MANE Select | NP_478059.1:p.Ala111= | |
| NM_021154.5:c.333C>T | NP_066977.1:p.Ala111= |