Linked Data
ClinVar Variation Id:
2105564
ClinVar RCV Id:
RCV003023513
MyVariant Identifiers:
chr18:g.43668085A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46088119A>G , CM000680.2:g.46088119A>G | GRCh38 |
| NC_000018.9:g.43668085A>G , CM000680.1:g.43668085A>G | GRCh37 |
| NC_000018.8:g.41922083A>G | NCBI36 |
| NG_041769.1:g.21115T>C | |
| NG_041769.2:g.26115T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.789T>C MANE Select | ENSP00000381736.5:p.Leu263= | |
| ENST00000282050.6:c.789T>C | ENSP00000282050.2:p.Leu263= | |
| ENST00000398752.10:c.789T>C | ENSP00000381736.5:p.Leu263= | |
| ENST00000586523.1:n.578T>C | ||
| ENST00000586592.5:c.*852T>C | ENSP00000466275.3:n.*852T>C | |
| ENST00000589252.5:c.522T>C | ENSP00000466975.1:p.Leu174= | |
| ENST00000590156.5:c.*685T>C | ENSP00000466309.1:n.*685T>C | |
| ENST00000590665.5:c.723T>C | ENSP00000467037.1:p.Leu241= | |
| ENST00000592364.5:c.227-1055T>C | ENSP00000468618.1:n.227-1055T>C | |
| ENST00000593152.6:c.639T>C | ENSP00000465477.2:p.Leu213= | |
| NM_001001935.2:c.639T>C | NP_001001935.1:p.Leu213= | |
| NM_001001937.1:c.789T>C | NP_001001937.1:p.Leu263= | |
| NM_001257334.1:c.723T>C | NP_001244263.1:p.Leu241= | |
| NM_001257335.1:c.639T>C | NP_001244264.1:p.Leu213= | |
| NM_004046.5:c.789T>C | NP_004037.1:p.Leu263= | |
| XM_011526018.1:c.639T>C | XP_011524320.1:p.Leu213= | |
| XM_017025789.1:c.789T>C | XP_016881278.1:p.Leu263= | |
| NM_004046.6:c.789T>C MANE Select | NP_004037.1:p.Leu263= | |
| NM_001001935.3:c.639T>C | NP_001001935.1:p.Leu213= | |
| NM_001257334.2:c.723T>C | NP_001244263.1:p.Leu241= | |
| NM_001001937.2:c.789T>C | NP_001001937.1:p.Leu263= | |
| NM_001257335.2:c.639T>C | NP_001244264.1:p.Leu213= |