Linked Data
ClinVar Variation Id:
461622
dbSNP Id:
rs138880406
ExAC:
13:23777990 C / T
gnomAD v2:
13-23777990-C-T
gnomAD v3:
13-23203851-C-T
gnomAD v4:
13-23203851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23203851C>T , CM000675.2:g.23203851C>T | GRCh38 |
| NC_000013.10:g.23777990C>T , CM000675.1:g.23777990C>T | GRCh37 |
| NC_000013.9:g.22675990C>T | NCBI36 |
| NG_008759.1:g.27931C>T , LRG_207:g.27931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.157C>T MANE Select | ENSP00000218867.3:p.Leu53Phe | |
| ENST00000218867.3:c.157C>T | ENSP00000218867.3:p.Leu53Phe | |
| NM_000231.2:c.157C>T , LRG_207t1:c.157C>T | NP_000222.1:p.Leu53Phe | |
| XM_005266505.2:c.157C>T | XP_005266562.1:p.Leu53Phe | |
| XM_006719861.2:c.211C>T | XP_006719924.1:p.Leu71Phe | |
| XM_006719861.3:c.211C>T | XP_006719924.1:p.Leu71Phe | |
| XM_024449397.1:c.157C>T | XP_024305165.1:p.Leu53Phe | |
| NM_000231.3:c.157C>T MANE Select | NP_000222.2:p.Leu53Phe | |
| NM_001378244.1:c.211C>T | NP_001365173.1:p.Leu71Phe | |
| NM_001378245.1:c.157C>T | NP_001365174.1:p.Leu53Phe | |
| NM_001378246.1:c.157C>T | NP_001365175.1:p.Leu53Phe |