Linked Data
ClinVar Variation Id:
307160
dbSNP Id:
rs141335001
ExAC:
12:110719688 C / T
gnomAD v2:
12-110719688-C-T
gnomAD v3:
12-110281883-C-T
gnomAD v4:
12-110281883-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110281883C>T , CM000674.2:g.110281883C>T | GRCh38 |
| NC_000012.11:g.110719688C>T , CM000674.1:g.110719688C>T | GRCh37 |
| NC_000012.10:g.109204071C>T | NCBI36 |
| NG_007097.2:g.5257C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552636.2:c.-257-721C>T | ENSP00000447406.2:n.-257-721C>T | |
| ENST00000539276.7:c.94C>T MANE Select | ENSP00000440045.2:p.Leu32Phe | |
| ENST00000308664.10:c.94C>T | ENSP00000311186.6:p.Leu32Phe | |
| ENST00000377685.9:c.94C>T | ENSP00000366913.4:p.Leu32Phe | |
| ENST00000539276.6:c.94C>T | ENSP00000440045.2:p.Leu32Phe | |
| ENST00000552636.1:c.-183-721C>T | ENSP00000447406.1:n.-183-721C>T | |
| NM_001681.3:c.94C>T | NP_001672.1:p.Leu32Phe | |
| NM_170665.3:c.94C>T | NP_733765.1:p.Leu32Phe | |
| XM_005253888.1:c.94C>T | XP_005253945.1:p.Leu32Phe | |
| XM_011538402.1:c.94C>T | XP_011536704.1:p.Leu32Phe | |
| XM_011538403.1:c.94C>T | XP_011536705.1:p.Leu32Phe | |
| XR_243009.1:n.100C>T | ||
| XM_005253888.3:c.94C>T | XP_005253945.1:p.Leu32Phe | |
| XM_011538402.3:c.94C>T | XP_011536704.1:p.Leu32Phe | |
| XR_002957329.1:n.100C>T | ||
| XR_243009.3:n.100C>T | ||
| NM_170665.4:c.94C>T MANE Select | NP_733765.1:p.Leu32Phe | |
| NM_001681.4:c.94C>T | NP_001672.1:p.Leu32Phe |