Linked Data
ClinVar Variation Id:
1232453
ClinVar RCV Id:
RCV001620273
dbSNP Id:
rs11568482
ExAC:
11:62763264 T / A
gnomAD v2:
11-62763264-T-A
gnomAD v3:
11-62995792-T-A
gnomAD v4:
11-62995792-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62995792T>A , CM000673.2:g.62995792T>A | GRCh38 |
| NC_000011.9:g.62763264T>A , CM000673.1:g.62763264T>A | GRCh37 |
| NC_000011.8:g.62519840T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336232.7:c.913A>T MANE Select | ENSP00000337335.2:p.Ile305Phe | |
| ENST00000311438.12:c.913A>T | ENSP00000311463.8:p.Ile305Phe | |
| ENST00000336232.6:c.913A>T | ENSP00000337335.2:p.Ile305Phe | |
| ENST00000430500.6:c.913A>T | ENSP00000398548.2:p.Ile305Phe | |
| ENST00000535878.5:c.544A>T | ENSP00000443368.1:p.Ile182Phe | |
| ENST00000539841.1:n.940A>T | ||
| ENST00000545207.5:c.640A>T | ENSP00000441658.1:p.Ile214Phe | |
| NM_001184732.1:c.913A>T | NP_001171661.1:p.Ile305Phe | |
| NM_001184733.1:c.640A>T | NP_001171662.1:p.Ile214Phe | |
| NM_001184736.1:c.544A>T | NP_001171665.1:p.Ile182Phe | |
| NM_004254.3:c.913A>T | NP_004245.2:p.Ile305Phe | |
| XM_011545364.1:c.544A>T | XP_011543666.1:p.Ile182Phe | |
| NM_004254.4:c.913A>T MANE Select | NP_004245.2:p.Ile305Phe | |
| NM_001184732.2:c.913A>T | NP_001171661.1:p.Ile305Phe | |
| NM_001184733.2:c.640A>T | NP_001171662.1:p.Ile214Phe | |
| NM_001184736.2:c.544A>T | NP_001171665.1:p.Ile182Phe |