Linked Data
ClinVar Variation Id:
444331
dbSNP Id:
rs1051653507
gnomAD v2:
14-61115717-C-T
gnomAD v3:
14-60648999-C-T
gnomAD v4:
14-60648999-C-T
COSMIC:
COSM956746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648999C>T , CM000676.2:g.60648999C>T | GRCh38 |
| NC_000014.8:g.61115717C>T , CM000676.1:g.61115717C>T | GRCh37 |
| NC_000014.7:g.60185470C>T | NCBI36 |
| NG_008231.1:g.5439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.191G>A MANE Select | ENSP00000494686.1:p.Arg64His | |
| ENST00000247182.6:c.191G>A | ENSP00000247182.5:p.Arg64His | |
| ENST00000553535.2:n.249-2422G>A | ||
| ENST00000554986.2:c.42-2422G>A | ENSP00000452700.2:n.42-2422G>A | |
| ENST00000555955.3:n.1198-2422G>A | ||
| NM_005982.3:c.191G>A | NP_005973.1:p.Arg64His | |
| XM_017021602.2:c.191G>A | XP_016877091.1:p.Arg64His | |
| NM_005982.4:c.191G>A MANE Select | NP_005973.1:p.Arg64His |