Linked Data
ClinVar Variation Id:
3206312
ClinVar RCV Id:
RCV004499711
dbSNP Id:
rs745385243
ExAC:
11:55579185 G / T
gnomAD v2:
11-55579185-G-T
gnomAD v3:
11-55811709-G-T
gnomAD v4:
11-55811709-G-T
COSMIC:
COSM125035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811709G>T , CM000673.2:g.55811709G>T | GRCh38 |
| NC_000011.9:g.55579185G>T , CM000673.1:g.55579185G>T | GRCh37 |
| NC_000011.8:g.55335761G>T | NCBI36 |
| NG_052620.1:g.5343G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.243G>T MANE Select | ENSP00000485319.1:p.Met81Ile | |
| ENST00000333973.3:c.243G>T | ENSP00000335529.2:p.Met81Ile | |
| ENST00000623450.1:c.243G>T | ENSP00000485509.1:p.Met81Ile | |
| ENST00000625203.1:c.243G>T | ENSP00000485319.1:p.Met81Ile | |
| NM_001004738.1:c.243G>T | NP_001004738.1:p.Met81Ile | |
| NM_001004738.2:c.243G>T MANE Select | NP_001004738.1:p.Met81Ile |