Linked Data
ClinVar Variation Id:
224333
dbSNP Id:
rs751218423
ExAC:
16:3573261 C / T
gnomAD v2:
16-3573261-C-T
gnomAD v3:
16-3523261-C-T
gnomAD v4:
16-3523261-C-T
PubMed:
PMID:26820066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3523261C>T , CM000678.2:g.3523261C>T | GRCh38 |
| NC_000016.9:g.3573261C>T , CM000678.1:g.3573261C>T | GRCh37 |
| NC_000016.8:g.3513262C>T | NCBI36 |
| NG_047131.1:g.27317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576634.6:c.817C>T MANE Select | ENSP00000460850.1:p.Leu273Phe | |
| ENST00000341633.9:c.817C>T | ENSP00000344392.5:p.Leu273Phe | |
| ENST00000571025.5:c.817C>T | ENSP00000460706.1:p.Leu273Phe | |
| ENST00000572600.5:c.319C>T | ENSP00000460889.1:p.Leu107Phe | |
| ENST00000572632.1:c.172C>T | ||
| ENST00000574551.1:c.319C>T | ENSP00000458513.1:p.Leu107Phe | |
| ENST00000575134.1:c.*417C>T | ENSP00000459399.1:n.*417C>T | |
| ENST00000576634.5:c.817C>T | ENSP00000460850.1:p.Leu273Phe | |
| NM_015041.2:c.817C>T | NP_055856.1:p.Leu273Phe | |
| NM_024793.2:c.319C>T | NP_079069.1:p.Leu107Phe | |
| XM_006720867.2:c.601C>T | XP_006720930.1:p.Leu201Phe | |
| NM_001330454.1:c.817C>T | NP_001317383.1:p.Leu273Phe | |
| XM_006720867.3:c.601C>T | XP_006720930.1:p.Leu201Phe | |
| XM_017023073.1:c.601C>T | XP_016878562.1:p.Leu201Phe | |
| XR_001751874.2:n.907C>T | ||
| XR_002957794.1:n.628C>T | ||
| NM_015041.3:c.817C>T MANE Select | NP_055856.1:p.Leu273Phe | |
| NM_001330454.2:c.817C>T | NP_001317383.1:p.Leu273Phe | |
| NM_024793.3:c.319C>T | NP_079069.1:p.Leu107Phe |