Linked Data
ClinVar Variation Id:
297632
ClinVar RCV Id:
RCV000326413
dbSNP Id:
rs140759061
gnomAD v2:
1-55316992-C-T
gnomAD v3:
1-54851319-C-T
gnomAD v4:
1-54851319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54851319C>T , CM000663.2:g.54851319C>T | GRCh38 |
| NC_000001.10:g.55316992C>T , CM000663.1:g.55316992C>T | GRCh37 |
| NC_000001.9:g.55089580C>T | NCBI36 |
| NG_008839.1:g.40930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.*914G>A MANE Select | ENSP00000360316.3:n.*914G>A | |
| ENST00000436604.2:c.*31-74G>A | ENSP00000416585.2:n.*31-74G>A | |
| ENST00000535035.6:c.*914G>A | ENSP00000440191.3:n.*914G>A | |
| ENST00000647912.1:c.*2100G>A | ENSP00000497559.1:n.*2100G>A | |
| ENST00000648712.1:n.2583G>A | ||
| ENST00000648728.1:c.*2120G>A | ENSP00000497084.1:n.*2120G>A | |
| ENST00000649769.1:c.*3167G>A | ENSP00000498012.1:n.*3167G>A | |
| ENST00000371269.7:c.*914G>A | ENSP00000360316.3:n.*914G>A | |
| ENST00000436604.1:c.494-74G>A | ||
| ENST00000535035.5:c.*914G>A | ENSP00000440191.2:n.*914G>A | |
| NM_014762.3:c.*914G>A | NP_055577.1:n.*914G>A | |
| NM_014762.4:c.*914G>A MANE Select | NP_055577.1:n.*914G>A |