Linked Data
ClinVar Variation Id:
5047
ClinVar RCV Id:
RCV002508104
dbSNP Id:
rs121918551
ExAC:
12:53701879 G / A
gnomAD v2:
12-53701879-G-A
gnomAD v4:
12-53308095-G-A
PubMed:
PMID:18628786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53308095G>A , CM000674.2:g.53308095G>A | GRCh38 |
| NC_000012.11:g.53701879G>A , CM000674.1:g.53701879G>A | GRCh37 |
| NC_000012.10:g.51988146G>A | NCBI36 |
| NG_016775.1:g.18534C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000209873.9:c.1288C>T MANE Select | ENSP00000209873.4:p.Leu430Phe | |
| ENST00000546562.6:n.2352C>T | ||
| ENST00000547238.6:n.1924C>T | ||
| ENST00000547520.6:n.1282C>T | ||
| ENST00000547757.2:c.337C>T | ENSP00000448020.2:p.Leu113Phe | |
| ENST00000548880.2:n.1738C>T | ||
| ENST00000548931.6:c.808C>T | ENSP00000457518.1:p.Leu270Phe | |
| ENST00000549450.6:n.1222C>T | ||
| ENST00000552161.6:n.2244C>T | ||
| ENST00000672797.1:n.1777C>T | ||
| ENST00000672900.1:n.2378C>T | ||
| ENST00000209873.8:c.1288C>T | ENSP00000209873.4:p.Leu430Phe | |
| ENST00000394384.7:c.1189C>T | ENSP00000377908.3:p.Leu397Phe | |
| ENST00000548931.5:c.808C>T | ENSP00000457518.1:p.Leu270Phe | |
| ENST00000550033.5:n.543C>T | ||
| ENST00000550286.5:c.916C>T | ENSP00000446885.1:p.Leu306Phe | |
| ENST00000552876.5:n.1631C>T | ||
| NM_001173466.1:c.1189C>T | NP_001166937.1:p.Leu397Phe | |
| NM_015665.5:c.1288C>T | NP_056480.1:p.Leu430Phe | |
| XM_006719617.2:c.1303C>T | XP_006719680.1:p.Leu435Phe | |
| XM_011538777.1:c.1303C>T | XP_011537079.1:p.Leu435Phe | |
| XM_011538778.1:c.1288C>T | XP_011537080.1:p.Leu430Phe | |
| XM_011538779.1:c.1204C>T | XP_011537081.1:p.Leu402Phe | |
| XM_011538780.1:c.1189C>T | XP_011537082.1:p.Leu397Phe | |
| XM_011538781.1:c.637C>T | XP_011537083.1:p.Leu213Phe | |
| XM_011538778.2:c.1288C>T | XP_011537080.1:p.Leu430Phe | |
| XM_011538780.2:c.1189C>T | XP_011537082.1:p.Leu397Phe | |
| XR_001748875.2:n.1345C>T | ||
| NM_015665.6:c.1288C>T MANE Select | NP_056480.1:p.Leu430Phe | |
| NM_001173466.2:c.1189C>T | NP_001166937.1:p.Leu397Phe |