Linked Data
ClinVar Variation Id:
307544
dbSNP Id:
rs137939978
ExAC:
12:124156614 A / G
gnomAD v2:
12-124156614-A-G
gnomAD v3:
12-123672067-A-G
gnomAD v4:
12-123672067-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123672067A>G , CM000674.2:g.123672067A>G | GRCh38 |
| NC_000012.11:g.124156614A>G , CM000674.1:g.124156614A>G | GRCh37 |
| NC_000012.10:g.122722567A>G | NCBI36 |
| NG_030442.1:g.5955A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.202A>G MANE Select | ENSP00000304941.5:p.Ile68Val | |
| ENST00000679504.1:c.202A>G | ENSP00000505006.1:p.Ile68Val | |
| ENST00000680500.1:c.202A>G | ENSP00000506438.1:p.Ile68Val | |
| ENST00000680574.1:c.202A>G | ENSP00000505356.1:p.Ile68Val | |
| ENST00000303372.6:c.202A>G | ENSP00000304941.5:p.Ile68Val | |
| ENST00000426174.6:c.202A>G | ENSP00000395171.2:p.Ile68Val | |
| ENST00000541523.1:c.*45A>G | ENSP00000437644.1:n.*45A>G | |
| NM_001143850.2:c.202A>G | NP_001137322.1:p.Ile68Val | |
| NM_024809.4:c.202A>G | NP_079085.2:p.Ile68Val | |
| XM_005253623.2:c.202A>G | XP_005253680.1:p.Ile68Val | |
| XM_006719605.2:c.202A>G | XP_006719668.1:p.Ile68Val | |
| XM_006719605.3:c.202A>G | XP_006719668.1:p.Ile68Val | |
| XM_017019974.1:c.202A>G | XP_016875463.1:p.Ile68Val | |
| XM_017019975.1:c.-581A>G | XP_016875464.1:n.-581A>G | |
| NM_024809.5:c.202A>G MANE Select | NP_079085.2:p.Ile68Val | |
| NM_001143850.3:c.202A>G | NP_001137322.1:p.Ile68Val |