Linked Data
dbSNP Id:
rs768543741
ExAC:
1:245027324 T / C
gnomAD v2:
1-245027324-T-C
gnomAD v4:
1-244864022-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864022T>C , CM000663.2:g.244864022T>C | GRCh38 |
| NC_000001.10:g.245027324T>C , CM000663.1:g.245027324T>C | GRCh37 |
| NC_000001.9:g.243093947T>C | NCBI36 |
| NG_042184.1:g.5504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.286A>G | ENSP00000283179.10:p.Ile96Val | |
| ENST00000444376.7:c.286A>G | ENSP00000393151.2:p.Ile96Val | |
| ENST00000476241.2:n.471A>G | ||
| ENST00000638475.1:c.70A>G | ENSP00000491305.1:p.Ile24Val | |
| ENST00000638952.1:n.517A>G | ||
| ENST00000640218.2:c.286A>G MANE Select | ENSP00000491215.1:p.Ile96Val | |
| ENST00000640306.1:c.286A>G | ENSP00000491685.1:p.Ile96Val | |
| ENST00000649899.1:n.510A>G | ||
| ENST00000283179.13:c.286A>G | ENSP00000283179.9:p.Ile96Val | |
| ENST00000444376.6:c.286A>G | ENSP00000393151.2:p.Ile96Val | |
| ENST00000476241.1:n.470A>G | ||
| NM_004501.3:c.286A>G | NP_004492.2:p.Ile96Val | |
| NM_031844.2:c.286A>G | NP_114032.2:p.Ile96Val | |
| NM_031844.3:c.286A>G MANE Select | NP_114032.2:p.Ile96Val |