Linked Data
ClinVar Variation Id:
1717933
ClinVar RCV Id:
RCV002299496
dbSNP Id:
rs1235827893
gnomAD v2:
12-4481789-T-C
gnomAD v4:
12-4372623-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372623T>C , CM000674.2:g.4372623T>C | GRCh38 |
| NC_000012.11:g.4481789T>C , CM000674.1:g.4481789T>C | GRCh37 |
| NC_000012.10:g.4352050T>C | NCBI36 |
| NG_007087.1:g.12106A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237837.2:c.286A>G MANE Select | ENSP00000237837.1:p.Met96Val | |
| ENST00000648100.1:c.*1967+6341T>C | ENSP00000497536.1:n.*1967+6341T>C | |
| ENST00000648269.1:n.1786A>G | ||
| ENST00000674624.1:c.*1204+6341T>C | ENSP00000501898.1:n.*1204+6341T>C | |
| ENST00000237837.1:c.286A>G | ENSP00000237837.1:p.Met96Val | |
| NM_020638.2:c.286A>G | NP_065689.1:p.Met96Val | |
| NM_020638.3:c.286A>G MANE Select | NP_065689.1:p.Met96Val |