Linked Data
ClinVar Variation Id:
136077
ClinVar RCV Id:
RCV000123264
RCV001358798
RCV002310680
RCV002483236
RCV003315822
RCV003584556
RCV000986028
RCV003422007
dbSNP Id:
rs587780793
gnomAD v2:
18-48584498-A-T
gnomAD v4:
18-51058128-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51058128A>T , CM000680.2:g.51058128A>T | GRCh38 |
| NC_000018.9:g.48584498A>T , CM000680.1:g.48584498A>T | GRCh37 |
| NC_000018.8:g.46838496A>T | NCBI36 |
| NG_013013.2:g.95089A>T , LRG_318:g.95089A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.671A>T | ENSP00000465878.2:p.Gln224Leu | |
| ENST00000589076.6:c.671A>T | ENSP00000466934.2:p.Gln224Leu | |
| ENST00000589941.2:c.671A>T | ENSP00000465874.2:p.Gln224Leu | |
| ENST00000590061.2:c.671A>T | ENSP00000464772.2:p.Gln224Leu | |
| ENST00000593223.2:c.671A>T | ENSP00000466118.2:p.Gln224Leu | |
| ENST00000611848.2:c.671A>T | ENSP00000478613.2:p.Gln224Leu | |
| ENST00000684953.1:n.2043A>T | ||
| ENST00000685232.1:n.779A>T | ||
| ENST00000688307.1:n.156-1738A>T | ||
| ENST00000688574.1:n.779A>T | ||
| ENST00000688903.1:n.885A>T | ||
| ENST00000690892.1:n.779A>T | ||
| ENST00000342988.8:c.671A>T MANE Select | ENSP00000341551.3:p.Gln224Leu | |
| ENST00000342988.7:c.671A>T | ENSP00000341551.3:p.Gln224Leu | |
| ENST00000398417.6:c.671A>T | ENSP00000381452.1:p.Gln224Leu | |
| ENST00000588745.5:c.667+3135A>T | ENSP00000464901.1:n.667+3135A>T | |
| ENST00000590722.2:c.*847A>T | ENSP00000465737.1:n.*847A>T | |
| ENST00000591126.5:n.2672A>T | ||
| ENST00000592186.5:c.671A>T | ENSP00000468611.1:p.Gln224Leu | |
| ENST00000592911.5:n.449A>T | ||
| NM_005359.5:c.671A>T , LRG_318t1:c.671A>T | NP_005350.1:p.Gln224Leu | |
| NM_005359.6:c.671A>T MANE Select | NP_005350.1:p.Gln224Leu |