Linked Data
ClinVar Variation Id:
1963838
ClinVar RCV Id:
RCV002740146
dbSNP Id:
rs756057097
ExAC:
9:133738230 C / T
gnomAD v2:
9-133738230-C-T
gnomAD v4:
9-130862843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862843C>T , CM000671.2:g.130862843C>T | GRCh38 |
| NC_000009.11:g.133738230C>T , CM000671.1:g.133738230C>T | GRCh37 |
| NC_000009.10:g.132728051C>T | NCBI36 |
| NG_012034.1:g.153963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.687C>T | ENSP00000361423.2:p.Ile229= | |
| ENST00000318560.6:c.630C>T MANE Select | ENSP00000323315.5:p.Ile210= | |
| ENST00000372348.7:c.687C>T | ENSP00000361423.2:p.Ile229= | |
| ENST00000318560.5:c.630C>T | ENSP00000323315.5:p.Ile210= | |
| ENST00000372348.6:c.687C>T | ENSP00000361423.2:p.Ile229= | |
| NM_005157.5:c.630C>T | NP_005148.2:p.Ile210= | |
| NM_007313.2:c.687C>T | NP_009297.2:p.Ile229= | |
| NM_005157.6:c.630C>T MANE Select | NP_005148.2:p.Ile210= | |
| NM_007313.3:c.687C>T | NP_009297.2:p.Ile229= |