Linked Data
ClinVar Variation Id:
222000
ClinVar RCV Id:
RCV000408650
dbSNP Id:
rs1057515420
gnomAD v4:
7-100819874-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100819874G>A , CM000669.2:g.100819874G>A | GRCh38 |
| NC_000007.13:g.100417496G>A , CM000669.1:g.100417496G>A | GRCh37 |
| NC_000007.12:g.100255432G>A | NCBI36 |
| NG_052671.1:g.12648C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358173.8:c.980C>T MANE Select | ENSP00000350896.3:p.Pro327Leu | |
| ENST00000358173.7:c.980C>T | ENSP00000350896.3:p.Pro327Leu | |
| ENST00000360620.7:c.980C>T | ENSP00000353833.3:p.Pro327Leu | |
| ENST00000477446.5:n.980C>T | ||
| ENST00000487222.5:n.2181C>T | ||
| ENST00000489808.1:n.808+2397C>T | ||
| ENST00000492878.1:n.358C>T | ||
| ENST00000616502.4:c.808+2397C>T | ENSP00000482702.1:n.808+2397C>T | |
| NM_004444.4:c.980C>T | NP_004435.3:p.Pro327Leu | |
| XM_017011816.1:c.980C>T | XP_016867305.1:p.Pro327Leu | |
| NM_004444.5:c.980C>T MANE Select | NP_004435.3:p.Pro327Leu |