Linked Data
ClinVar Variation Id:
2599845
ClinVar RCV Id:
RCV004343328
dbSNP Id:
rs765590759
ExAC:
11:71929710 C / T
gnomAD v2:
11-71929710-C-T
gnomAD v3:
11-72218666-C-T
gnomAD v4:
11-72218666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72218666C>T , CM000673.2:g.72218666C>T | GRCh38 |
| NC_000011.9:g.71929710C>T , CM000673.1:g.71929710C>T | GRCh37 |
| NC_000011.8:g.71607358C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298223.11:c.82C>T MANE Select | ENSP00000298223.6:p.Leu28Phe | |
| ENST00000298223.10:c.82C>T | ENSP00000298223.6:p.Leu28Phe | |
| ENST00000321324.11:c.121C>T | ENSP00000321957.7:p.Leu41Phe | |
| ENST00000449475.6:c.133C>T | ENSP00000405638.2:p.Leu45Phe | |
| ENST00000454954.6:c.27+1741C>T | ENSP00000414094.2:n.27+1741C>T | |
| ENST00000535625.5:c.82C>T | ENSP00000444794.1:p.Leu28Phe | |
| ENST00000536778.5:c.127C>T | ENSP00000438568.1:p.Leu43Phe | |
| ENST00000538353.1:c.82C>T | ENSP00000440337.1:p.Leu28Phe | |
| ENST00000539412.5:c.115C>T | ENSP00000441547.1:p.Leu39Phe | |
| ENST00000541003.5:c.220C>T | ENSP00000443307.1:p.Leu74Phe | |
| ENST00000619261.4:c.133C>T | ENSP00000480592.1:p.Leu45Phe | |
| NM_000803.4:c.82C>T | NP_000794.3:p.Leu28Phe | |
| NM_001113534.1:c.82C>T | NP_001107006.1:p.Leu28Phe | |
| NM_001113535.1:c.82C>T | NP_001107007.1:p.Leu28Phe | |
| NM_001113536.1:c.82C>T | NP_001107008.1:p.Leu28Phe | |
| XM_005273856.2:c.109C>T | XP_005273913.1:p.Leu37Phe | |
| XM_011544869.1:c.133C>T | XP_011543171.1:p.Leu45Phe | |
| XM_011544870.1:c.127C>T | XP_011543172.1:p.Leu43Phe | |
| XM_011544871.1:c.121C>T | XP_011543173.1:p.Leu41Phe | |
| XM_011544872.1:c.115C>T | XP_011543174.1:p.Leu39Phe | |
| XM_005273856.4:c.109C>T | XP_005273913.1:p.Leu37Phe | |
| XM_024448412.1:c.133C>T | XP_024304180.1:p.Leu45Phe | |
| NM_000803.5:c.82C>T MANE Select | NP_000794.3:p.Leu28Phe | |
| NM_001113534.2:c.82C>T | NP_001107006.1:p.Leu28Phe | |
| NM_001113535.2:c.82C>T | NP_001107007.1:p.Leu28Phe | |
| NM_001113536.2:c.82C>T | NP_001107008.1:p.Leu28Phe |