Linked Data
ClinVar Variation Id:
1495146
ClinVar RCV Id:
RCV001999154
dbSNP Id:
rs1358742335
gnomAD v3:
22-23766172-C-A
gnomAD v4:
22-23766172-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766172C>A , CM000684.2:g.23766172C>A | GRCh38 |
| NC_000022.10:g.24108359C>A , CM000684.1:g.24108359C>A | GRCh37 |
| NC_000022.9:g.22438359C>A | NCBI36 |
| NG_034223.1:g.6801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.365G>T MANE Select | ENSP00000418428.3:p.Cys122Phe | |
| ENST00000401675.7:c.386G>T | ENSP00000384973.3:p.Cys129Phe | |
| ENST00000484558.2:c.365G>T | ENSP00000418428.2:p.Cys122Phe | |
| ENST00000517886.1:c.*12G>T | ENSP00000429976.1:n.*12G>T | |
| ENST00000520222.1:c.145G>T | ENSP00000430042.1:p.Val49Leu | |
| ENST00000523865.1:n.293G>T | ||
| NM_001301339.1:c.386G>T | NP_001288268.1:p.Cys129Phe | |
| NM_213720.2:c.365G>T | NP_998885.1:p.Cys122Phe | |
| NR_125755.1:n.410G>T | ||
| NR_125756.1:n.243G>T | ||
| NM_001301339.2:c.386G>T | NP_001288268.1:p.Cys129Phe | |
| NM_213720.3:c.365G>T MANE Select | NP_998885.1:p.Cys122Phe | |
| NR_125755.2:n.410G>T | ||
| NR_125756.2:n.243G>T |