Linked Data
ClinVar Variation Id:
2112041
dbSNP Id:
rs758827138
ExAC:
19:55665428 G / A
gnomAD v2:
19-55665428-G-A
gnomAD v4:
19-55154060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154060G>A , CM000681.2:g.55154060G>A | GRCh38 |
| NC_000019.9:g.55665428G>A , CM000681.1:g.55665428G>A | GRCh37 |
| NC_000019.8:g.60357240G>A | NCBI36 |
| NG_007866.2:g.8673C>T , LRG_432:g.8673C>T | |
| NG_011829.2:g.179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.519C>T MANE Select | ENSP00000341838.5:p.Leu173= | |
| ENST00000665070.1:c.552C>T | ENSP00000499482.1:p.Leu184= | |
| ENST00000344887.9:c.519C>T | ENSP00000341838.5:p.Leu173= | |
| ENST00000585806.5:n.518C>T | ||
| ENST00000588882.1:c.444C>T | ENSP00000466729.1:p.Leu148= | |
| ENST00000589864.1:n.347C>T | ||
| NM_000363.4:c.519C>T , LRG_432t1:c.519C>T | NP_000354.4:p.Leu173= | |
| NM_000363.5:c.519C>T MANE Select | NP_000354.4:p.Leu173= |