Linked Data
ClinVar Variation Id:
389799
dbSNP Id:
rs748813517
ExAC:
18:43664483 A / G
gnomAD v2:
18-43664483-A-G
gnomAD v3:
18-46084517-A-G
gnomAD v4:
18-46084517-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46084517A>G , CM000680.2:g.46084517A>G | GRCh38 |
| NC_000018.9:g.43664483A>G , CM000680.1:g.43664483A>G | GRCh37 |
| NC_000018.8:g.41918481A>G | NCBI36 |
| NG_041769.1:g.24717T>C | |
| NG_041769.2:g.29717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.1567T>C MANE Select | ENSP00000381736.5:p.Leu523= | |
| ENST00000282050.6:c.1567T>C | ENSP00000282050.2:p.Leu523= | |
| ENST00000398752.10:c.1567T>C | ENSP00000381736.5:p.Leu523= | |
| ENST00000586523.1:n.4180T>C | ||
| ENST00000586592.5:c.*1630T>C | ENSP00000466275.3:n.*1630T>C | |
| ENST00000587902.1:n.481T>C | ||
| ENST00000590156.5:c.*1463T>C | ENSP00000466309.1:n.*1463T>C | |
| ENST00000590665.5:c.1501T>C | ENSP00000467037.1:p.Leu501= | |
| ENST00000593152.6:c.1417T>C | ENSP00000465477.2:p.Leu473= | |
| NM_001001935.2:c.1417T>C | NP_001001935.1:p.Leu473= | |
| NM_001001937.1:c.1567T>C | NP_001001937.1:p.Leu523= | |
| NM_001257334.1:c.1501T>C | NP_001244263.1:p.Leu501= | |
| NM_001257335.1:c.1417T>C | NP_001244264.1:p.Leu473= | |
| NM_004046.5:c.1567T>C | NP_004037.1:p.Leu523= | |
| XM_011526018.1:c.1417T>C | XP_011524320.1:p.Leu473= | |
| XM_017025789.1:c.1567T>C | XP_016881278.1:p.Leu523= | |
| NM_004046.6:c.1567T>C MANE Select | NP_004037.1:p.Leu523= | |
| NM_001001935.3:c.1417T>C | NP_001001935.1:p.Leu473= | |
| NM_001257334.2:c.1501T>C | NP_001244263.1:p.Leu501= | |
| NM_001001937.2:c.1567T>C | NP_001001937.1:p.Leu523= | |
| NM_001257335.2:c.1417T>C | NP_001244264.1:p.Leu473= |