Linked Data
ClinVar Variation Id:
543947
dbSNP Id:
rs1302726543
gnomAD v2:
4-88940651-C-T
gnomAD v3:
4-88019499-C-T
gnomAD v4:
4-88019499-C-T
COSMIC:
COSM5796109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88019499C>T , CM000666.2:g.88019499C>T | GRCh38 |
| NC_000004.11:g.88940651C>T , CM000666.1:g.88940651C>T | GRCh37 |
| NC_000004.10:g.89159675C>T | NCBI36 |
| NG_008604.1:g.16832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.637C>T MANE Select | ENSP00000237596.2:p.Arg213Ter | |
| ENST00000237596.6:c.637C>T | ENSP00000237596.2:p.Arg213Ter | |
| ENST00000506727.1:n.139C>T | ||
| NM_000297.3:c.637C>T | NP_000288.1:p.Arg213Ter | |
| XM_011532028.1:c.637C>T | XP_011530330.1:p.Arg213Ter | |
| XR_244632.2:n.732C>T | ||
| NR_156488.1:n.724C>T | ||
| XM_011532028.2:c.637C>T | XP_011530330.1:p.Arg213Ter | |
| NM_000297.4:c.637C>T MANE Select | NP_000288.1:p.Arg213Ter | |
| NR_156488.2:n.736C>T |