Linked Data
ClinVar Variation Id:
66136
ClinVar RCV Id:
RCV000056437
dbSNP Id:
rs59979366
ExAC:
12:53344142 A / G
gnomAD v2:
12-53344142-A-G
gnomAD v3:
12-52950358-A-G
gnomAD v4:
12-52950358-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52950358A>G , CM000674.2:g.52950358A>G | GRCh38 |
| NC_000012.11:g.53344142A>G , CM000674.1:g.53344142A>G | GRCh37 |
| NC_000012.10:g.51630409A>G | NCBI36 |
| NG_008351.1:g.6488A>G | |
| NG_008402.2:g.4509T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388835.4:c.448A>G MANE Select | ENSP00000373487.3:p.Ile150Val | |
| ENST00000388835.3:c.448A>G | ENSP00000373487.3:p.Ile150Val | |
| ENST00000388837.6:c.448A>G | ENSP00000373489.2:p.Ile150Val | |
| ENST00000548015.1:n.554A>G | ||
| ENST00000549078.5:n.495A>G | ||
| ENST00000550600.5:c.448A>G | ENSP00000447278.1:p.Ile150Val | |
| NM_000224.2:c.448A>G | NP_000215.1:p.Ile150Val | |
| NM_199187.1:c.448A>G | NP_954657.1:p.Ile150Val | |
| NM_000224.3:c.448A>G MANE Select | NP_000215.1:p.Ile150Val | |
| NM_199187.2:c.448A>G | NP_954657.1:p.Ile150Val |