Linked Data
ClinVar Variation Id:
1651223
ClinVar RCV Id:
RCV002151631
dbSNP Id:
rs1143646
ExAC:
4:3148653 T / G
gnomAD v2:
4-3148653-T-G
gnomAD v3:
4-3146926-T-G
gnomAD v4:
4-3146926-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3146926T>G , CM000666.2:g.3146926T>G | GRCh38 |
| NC_000004.11:g.3148653T>G , CM000666.1:g.3148653T>G | GRCh37 |
| NC_000004.10:g.3118451T>G | NCBI36 |
| NG_009378.1:g.77252T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355072.11:c.3273T>G MANE Select | ENSP00000347184.5:p.Ile1091Met | |
| ENST00000355072.10:c.3273T>G | ENSP00000347184.5:p.Ile1091Met | |
| ENST00000680239.1:c.3015T>G | ENSP00000506169.1:p.Ile1005Met | |
| ENST00000680291.1:n.3370T>G | ||
| ENST00000680360.1:c.3015T>G | ENSP00000505014.1:p.Ile1005Met | |
| ENST00000680956.1:c.3015T>G | ENSP00000506029.1:p.Ile1005Met | |
| ENST00000681528.1:c.3015T>G | ENSP00000506116.1:p.Ile1005Met | |
| ENST00000355072.9:c.3273T>G | ENSP00000347184.5:p.Ile1091Met | |
| ENST00000510626.5:n.3372T>G | ||
| NM_002111.7:c.3279T>G | NP_002102.4:p.Ile1093Met | |
| NM_002111.8:c.3279T>G | NP_002102.4:p.Ile1093Met | |
| NM_001388492.1:c.3273T>G MANE Select | NP_001375421.1:p.Ile1091Met |