Linked Data
ClinVar Variation Id:
7721
ClinVar RCV Id:
RCV000008160
dbSNP Id:
rs104894533
ExAC:
16:8895684 T / G
gnomAD v2:
16-8895684-T-G
gnomAD v4:
16-8801827-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8801827T>G , CM000678.2:g.8801827T>G | GRCh38 |
| NC_000016.9:g.8895684T>G , CM000678.1:g.8895684T>G | GRCh37 |
| NC_000016.8:g.8803185T>G | NCBI36 |
| NG_009209.1:g.9015T>G | |
| NG_033146.1:g.822A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682008.1:c.95T>G | ENSP00000507849.1:p.Leu32Arg | |
| ENST00000682393.1:c.95T>G | ENSP00000506774.1:p.Leu32Arg | |
| ENST00000683094.1:c.95T>G | ENSP00000508230.1:p.Leu32Arg | |
| ENST00000683274.1:c.95T>G | ENSP00000507262.1:p.Leu32Arg | |
| ENST00000683435.1:c.95T>G | ENSP00000508092.1:p.Leu32Arg | |
| ENST00000268261.9:c.95T>G MANE Select | ENSP00000268261.4:p.Leu32Arg | |
| ENST00000268261.8:c.95T>G | ENSP00000268261.4:p.Leu32Arg | |
| ENST00000562318.5:c.95T>G | ENSP00000454395.1:p.Leu32Arg | |
| ENST00000562448.1:n.136T>G | ||
| ENST00000564030.5:n.157T>G | ||
| ENST00000564069.1:c.66T>G | ||
| ENST00000565221.5:c.95T>G | ENSP00000457932.1:p.Leu32Arg | |
| ENST00000565896.5:c.95T>G | ENSP00000456024.1:p.Leu32Arg | |
| ENST00000566196.5:n.139T>G | ||
| ENST00000566540.5:c.95T>G | ENSP00000454284.1:p.Leu32Arg | |
| ENST00000566604.5:c.95T>G | ENSP00000456774.1:p.Leu32Arg | |
| ENST00000566983.5:c.14T>G | ENSP00000457956.1:p.Leu5Arg | |
| ENST00000568602.5:c.95T>G | ENSP00000455066.1:p.Leu32Arg | |
| ENST00000569958.5:c.95T>G | ENSP00000456302.1:p.Leu32Arg | |
| ENST00000570076.5:c.95T>G | ENSP00000456961.1:p.Leu32Arg | |
| ENST00000570134.5:c.95T>G | ENSP00000456275.1:p.Leu32Arg | |
| NM_000303.2:c.95T>G | NP_000294.1:p.Leu32Arg | |
| XM_005255372.3:c.95T>G | XP_005255429.1:p.Leu32Arg | |
| XM_005255373.3:c.-78T>G | XP_005255430.1:n.-78T>G | |
| XM_005255374.3:c.-78T>G | XP_005255431.1:n.-78T>G | |
| XM_011522538.1:c.95T>G | XP_011520840.1:p.Leu32Arg | |
| XM_011522539.1:c.-112T>G | XP_011520841.1:n.-112T>G | |
| XM_005255374.4:c.-78T>G | XP_005255431.1:n.-78T>G | |
| NM_000303.3:c.95T>G MANE Select | NP_000294.1:p.Leu32Arg |