Linked Data
ClinVar Variation Id:
438683
ClinVar RCV Id:
RCV000505642
dbSNP Id:
rs1554721879
gnomAD v4:
9-126615419-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126615419G>T , CM000671.2:g.126615419G>T | GRCh38 |
| NC_000009.11:g.129377698G>T , CM000671.1:g.129377698G>T | GRCh37 |
| NC_000009.10:g.128417519G>T | NCBI36 |
| NG_017039.1:g.5977G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.176G>T | ENSP00000347684.5:p.Cys59Phe | |
| ENST00000373474.9:c.176G>T MANE Select | ENSP00000362573.3:p.Cys59Phe | |
| ENST00000526117.6:c.176G>T | ENSP00000436930.1:p.Cys59Phe | |
| ENST00000355497.9:c.176G>T | ENSP00000347684.5:p.Cys59Phe | |
| ENST00000373474.8:c.176G>T | ENSP00000362573.3:p.Cys59Phe | |
| ENST00000526117.5:c.176G>T | ENSP00000436930.1:p.Cys59Phe | |
| ENST00000561065.1:c.107G>T | ENSP00000453580.1:p.Cys36Phe | |
| NM_001174146.1:c.176G>T | NP_001167617.1:p.Cys59Phe | |
| NM_001174147.1:c.176G>T | NP_001167618.1:p.Cys59Phe | |
| NM_002316.3:c.176G>T | NP_002307.2:p.Cys59Phe | |
| NM_001174146.2:c.176G>T | NP_001167617.1:p.Cys59Phe | |
| NM_001174147.2:c.176G>T MANE Select | NP_001167618.1:p.Cys59Phe | |
| NM_002316.4:c.176G>T | NP_002307.2:p.Cys59Phe |