Linked Data
dbSNP Id:
rs769891523
ExAC:
1:196965184 C / T
gnomAD v2:
1-196965184-C-T
gnomAD v4:
1-196996054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996054C>T , CM000663.2:g.196996054C>T | GRCh38 |
| NC_000001.10:g.196965184C>T , CM000663.1:g.196965184C>T | GRCh37 |
| NC_000001.9:g.195231807C>T | NCBI36 |
| NG_016365.1:g.23518C>T , LRG_227:g.23518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.568C>T | ENSP00000514393.1:p.Leu190Phe | |
| ENST00000699467.1:n.892C>T | ||
| ENST00000699468.1:c.-24-60C>T | ENSP00000514394.1:n.-24-60C>T | |
| ENST00000256785.5:c.823C>T MANE Select | ENSP00000256785.4:p.Leu275Phe | |
| ENST00000256785.4:c.823C>T | ENSP00000256785.4:p.Leu275Phe | |
| NM_030787.3:c.823C>T , LRG_227t1:c.823C>T | NP_110414.1:p.Leu275Phe | |
| XM_011510020.1:c.832C>T | XP_011508322.1:p.Leu278Phe | |
| XM_011510020.2:c.832C>T | XP_011508322.1:p.Leu278Phe | |
| NM_030787.4:c.823C>T MANE Select | NP_110414.1:p.Leu275Phe |