Linked Data
ClinVar Variation Id:
226623
dbSNP Id:
rs5346
ExAC:
13:78492660 G / A
gnomAD v2:
13-78492660-G-A
gnomAD v3:
13-77918525-G-A
gnomAD v4:
13-77918525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77918525G>A , CM000675.2:g.77918525G>A | GRCh38 |
| NC_000013.10:g.78492660G>A , CM000675.1:g.78492660G>A | GRCh37 |
| NC_000013.9:g.77390661G>A | NCBI36 |
| NG_011630.2:g.62005C>T | |
| NG_011630.3:g.61199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475537.2:c.49C>T | ENSP00000487082.2:p.Leu17Phe | |
| ENST00000643890.1:c.49C>T | ENSP00000495815.1:p.Leu17Phe | |
| ENST00000646605.1:c.49C>T | ENSP00000494278.1:p.Leu17Phe | |
| ENST00000646607.2:c.49C>T MANE Select | ENSP00000493527.1:p.Leu17Phe | |
| ENST00000646948.1:c.49C>T | ENSP00000493895.1:p.Leu17Phe | |
| ENST00000334286.7:c.49C>T | ENSP00000335311.5:p.Leu17Phe | |
| ENST00000377211.8:c.319C>T | ENSP00000366416.4:p.Leu107Phe | |
| ENST00000475537.1:c.49C>T | ENSP00000487082.1:p.Leu17Phe | |
| ENST00000626030.1:c.49C>T | ENSP00000486202.1:p.Leu17Phe | |
| NM_000115.3:c.49C>T | NP_000106.1:p.Leu17Phe | |
| NM_001122659.2:c.49C>T | NP_001116131.1:p.Leu17Phe | |
| NM_001201397.1:c.319C>T | NP_001188326.1:p.Leu107Phe | |
| NM_003991.3:c.49C>T | NP_003982.1:p.Leu17Phe | |
| XM_005266275.2:c.49C>T | XP_005266332.2:p.Leu17Phe | |
| XM_011534949.1:c.49C>T | XP_011533251.1:p.Leu17Phe | |
| NM_000115.4:c.49C>T | NP_000106.1:p.Leu17Phe | |
| NM_001122659.3:c.49C>T MANE Select | NP_001116131.1:p.Leu17Phe | |
| NM_000115.5:c.49C>T | NP_000106.1:p.Leu17Phe | |
| NM_003991.4:c.49C>T | NP_003982.1:p.Leu17Phe |