Linked Data
ClinVar Variation Id:
424653
ClinVar RCV Id:
RCV000516040
dbSNP Id:
rs1553316816
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32126982T>A , CM000664.2:g.32126982T>A | GRCh38 |
| NC_000002.11:g.32352051T>A , CM000664.1:g.32352051T>A | GRCh37 |
| NC_000002.10:g.32205555T>A | NCBI36 |
| NG_008730.1:g.68372T>A , LRG_714:g.68372T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*793T>A | ENSP00000515816.1:n.*793T>A | |
| ENST00000315285.9:c.1133T>A MANE Select | ENSP00000320885.3:p.Leu378Gln | |
| ENST00000621856.2:c.1130T>A | ENSP00000482496.2:p.Leu377Gln | |
| ENST00000642281.1:c.983-9581T>A | ||
| ENST00000642455.1:c.1034T>A | ENSP00000493827.1:p.Leu345Gln | |
| ENST00000642751.1:c.907T>A | ||
| ENST00000642999.1:c.875T>A | ENSP00000496589.1:p.Leu292Gln | |
| ENST00000643327.1:c.292T>A | ||
| ENST00000643334.1:c.713T>A | ||
| ENST00000644408.1:c.1009T>A | ||
| ENST00000644954.1:c.779T>A | ENSP00000494312.1:p.Leu260Gln | |
| ENST00000645159.1:n.485T>A | ||
| ENST00000645550.1:n.346T>A | ||
| ENST00000645671.1:c.583T>A | ||
| ENST00000645730.1:c.480T>A | ||
| ENST00000646082.1:c.779T>A | ||
| ENST00000646571.1:c.1037T>A | ENSP00000495015.1:p.Leu346Gln | |
| ENST00000647007.1:n.825T>A | ||
| ENST00000647133.1:c.674-1426T>A | ||
| ENST00000315285.7:c.1133T>A | ENSP00000320885.3:p.Leu378Gln | |
| ENST00000345662.5:c.1037T>A | ENSP00000340817.1:p.Leu346Gln | |
| ENST00000615843.4:c.1133T>A | ENSP00000480893.1:p.Leu378Gln | |
| ENST00000621856.1:c.875T>A | ENSP00000482496.1:p.Leu292Gln | |
| NM_014946.3:c.1133T>A , LRG_714t1:c.1133T>A | NP_055761.2:p.Leu378Gln | |
| NM_199436.1:c.1037T>A | NP_955468.1:p.Leu346Gln | |
| XM_005264516.3:c.1130T>A | XP_005264573.1:p.Leu377Gln | |
| XM_011533067.1:c.1133T>A | XP_011531369.1:p.Leu378Gln | |
| NM_001363823.1:c.1130T>A | NP_001350752.1:p.Leu377Gln | |
| NM_001363875.1:c.1034T>A | NP_001350804.1:p.Leu345Gln | |
| XM_005264516.5:c.1130T>A | XP_005264573.1:p.Leu377Gln | |
| XM_011533067.2:c.1133T>A | XP_011531369.1:p.Leu378Gln | |
| XM_017004778.2:c.1037T>A | XP_016860267.1:p.Leu346Gln | |
| NM_001363823.2:c.1130T>A | NP_001350752.1:p.Leu377Gln | |
| NM_001363875.2:c.1034T>A | NP_001350804.1:p.Leu345Gln | |
| NM_001377959.1:c.1037T>A | NP_001364888.1:p.Leu346Gln | |
| NM_014946.4:c.1133T>A MANE Select | NP_055761.2:p.Leu378Gln | |
| NM_199436.2:c.1037T>A | NP_955468.1:p.Leu346Gln |