Linked Data
ClinVar Variation Id:
1037901
ClinVar RCV Id:
RCV001341128
dbSNP Id:
rs757323701
ExAC:
16:8900251 C / G
gnomAD v2:
16-8900251-C-G
gnomAD v3:
16-8806394-C-G
gnomAD v4:
16-8806394-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806394C>G , CM000678.2:g.8806394C>G | GRCh38 |
| NC_000016.9:g.8900251C>G , CM000678.1:g.8900251C>G | GRCh37 |
| NC_000016.8:g.8807752C>G | NCBI36 |
| NG_009209.1:g.13582C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.334C>G | ENSP00000507849.1:p.Leu112Val | |
| ENST00000682393.1:c.178+4484C>G | ENSP00000506774.1:n.178+4484C>G | |
| ENST00000683094.1:c.*56C>G | ENSP00000508230.1:n.*56C>G | |
| ENST00000683274.1:c.334C>G | ENSP00000507262.1:p.Leu112Val | |
| ENST00000683435.1:c.*330C>G | ENSP00000508092.1:n.*330C>G | |
| ENST00000268261.9:c.334C>G MANE Select | ENSP00000268261.4:p.Leu112Val | |
| ENST00000268261.8:c.334C>G | ENSP00000268261.4:p.Leu112Val | |
| ENST00000562318.5:c.*56C>G | ENSP00000454395.1:n.*56C>G | |
| ENST00000562448.1:n.298C>G | ||
| ENST00000564030.5:n.396C>G | ||
| ENST00000564069.1:c.305C>G | ||
| ENST00000565221.5:c.178+4484C>G | ENSP00000457932.1:n.178+4484C>G | |
| ENST00000565896.5:c.*145+4005C>G | ENSP00000456024.1:n.*145+4005C>G | |
| ENST00000566540.5:c.*56C>G | ENSP00000454284.1:n.*56C>G | |
| ENST00000566604.5:c.334C>G | ENSP00000456774.1:p.Leu112Val | |
| ENST00000566983.5:c.253C>G | ENSP00000457956.1:p.Leu85Val | |
| ENST00000568602.5:c.*187C>G | ENSP00000455066.1:n.*187C>G | |
| ENST00000569958.5:c.178+4484C>G | ENSP00000456302.1:n.178+4484C>G | |
| ENST00000570076.5:c.178+4484C>G | ENSP00000456961.1:n.178+4484C>G | |
| ENST00000570134.5:c.*56C>G | ENSP00000456275.1:n.*56C>G | |
| NM_000303.2:c.334C>G | NP_000294.1:p.Leu112Val | |
| XM_005255372.3:c.334C>G | XP_005255429.1:p.Leu112Val | |
| XM_005255373.3:c.85C>G | XP_005255430.1:p.Leu29Val | |
| XM_005255374.3:c.85C>G | XP_005255431.1:p.Leu29Val | |
| XM_011522538.1:c.334C>G | XP_011520840.1:p.Leu112Val | |
| XM_011522539.1:c.-29+4484C>G | XP_011520841.1:n.-29+4484C>G | |
| XM_005255374.4:c.85C>G | XP_005255431.1:p.Leu29Val | |
| NM_000303.3:c.334C>G MANE Select | NP_000294.1:p.Leu112Val |