Linked Data
ClinVar Variation Id:
158685
ClinVar RCV Id:
RCV000146119
RCV000323784
RCV000372639
RCV000445429
RCV000576834
RCV001275132
RCV001516639
RCV001533236
RCV002226426
dbSNP Id:
rs1800467
ExAC:
11:17408831 G / C
gnomAD v2:
11-17408831-G-C
gnomAD v3:
11-17387284-G-C
gnomAD v4:
11-17387284-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387284G>C , CM000673.2:g.17387284G>C | GRCh38 |
| NC_000011.9:g.17408831G>C , CM000673.1:g.17408831G>C | GRCh37 |
| NC_000011.8:g.17365407G>C | NCBI36 |
| NG_012446.1:g.6376C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682350.1:c.547C>G | ENSP00000508090.1:p.Leu183Val | |
| ENST00000682764.1:c.547C>G | ENSP00000506780.1:p.Leu183Val | |
| ENST00000339994.5:c.808C>G MANE Select | ENSP00000345708.4:p.Leu270Val | |
| ENST00000339994.4:c.808C>G | ENSP00000345708.4:p.Leu270Val | |
| ENST00000528731.1:c.547C>G | ENSP00000434755.1:p.Leu183Val | |
| NM_000525.3:c.808C>G | NP_000516.3:p.Leu270Val | |
| NM_001166290.1:c.547C>G | NP_001159762.1:p.Leu183Val | |
| XM_006718226.2:c.547C>G | XP_006718289.1:p.Leu183Val | |
| XR_930867.1:n.966C>G | ||
| XM_006718226.3:c.547C>G | XP_006718289.1:p.Leu183Val | |
| XM_017017680.1:c.547C>G | XP_016873169.1:p.Leu183Val | |
| NM_001166290.2:c.547C>G | NP_001159762.1:p.Leu183Val | |
| NM_001377296.1:c.547C>G | NP_001364225.1:p.Leu183Val | |
| NM_001377297.1:c.547C>G | NP_001364226.1:p.Leu183Val | |
| NM_000525.4:c.808C>G MANE Select | NP_000516.3:p.Leu270Val |