Linked Data
ClinVar Variation Id:
1722873
ClinVar RCV Id:
RCV002305980
dbSNP Id:
rs753837503
ExAC:
18:43664538 A / C
gnomAD v2:
18-43664538-A-C
gnomAD v4:
18-46084572-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46084572A>C , CM000680.2:g.46084572A>C | GRCh38 |
| NC_000018.9:g.43664538A>C , CM000680.1:g.43664538A>C | GRCh37 |
| NC_000018.8:g.41918536A>C | NCBI36 |
| NG_041769.1:g.24662T>G | |
| NG_041769.2:g.29662T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.1512T>G MANE Select | ENSP00000381736.5:p.Ile504Met | |
| ENST00000282050.6:c.1512T>G | ENSP00000282050.2:p.Ile504Met | |
| ENST00000398752.10:c.1512T>G | ENSP00000381736.5:p.Ile504Met | |
| ENST00000586523.1:n.4125T>G | ||
| ENST00000586592.5:c.*1575T>G | ENSP00000466275.3:n.*1575T>G | |
| ENST00000587902.1:n.426T>G | ||
| ENST00000590156.5:c.*1408T>G | ENSP00000466309.1:n.*1408T>G | |
| ENST00000590665.5:c.1446T>G | ENSP00000467037.1:p.Ile482Met | |
| ENST00000593152.6:c.1362T>G | ENSP00000465477.2:p.Ile454Met | |
| NM_001001935.2:c.1362T>G | NP_001001935.1:p.Ile454Met | |
| NM_001001937.1:c.1512T>G | NP_001001937.1:p.Ile504Met | |
| NM_001257334.1:c.1446T>G | NP_001244263.1:p.Ile482Met | |
| NM_001257335.1:c.1362T>G | NP_001244264.1:p.Ile454Met | |
| NM_004046.5:c.1512T>G | NP_004037.1:p.Ile504Met | |
| XM_011526018.1:c.1362T>G | XP_011524320.1:p.Ile454Met | |
| XM_017025789.1:c.1512T>G | XP_016881278.1:p.Ile504Met | |
| NM_004046.6:c.1512T>G MANE Select | NP_004037.1:p.Ile504Met | |
| NM_001001935.3:c.1362T>G | NP_001001935.1:p.Ile454Met | |
| NM_001257334.2:c.1446T>G | NP_001244263.1:p.Ile482Met | |
| NM_001001937.2:c.1512T>G | NP_001001937.1:p.Ile504Met | |
| NM_001257335.2:c.1362T>G | NP_001244264.1:p.Ile454Met |