Linked Data
ClinVar Variation Id:
348909
dbSNP Id:
rs148629782
ExAC:
4:55161397 C / G
gnomAD v2:
4-55161397-C-G
gnomAD v3:
4-54295230-C-G
gnomAD v4:
4-54295230-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54295230C>G , CM000666.2:g.54295230C>G | GRCh38 |
| NC_000004.11:g.55161397C>G , CM000666.1:g.55161397C>G | GRCh37 |
| NC_000004.10:g.54856154C>G | NCBI36 |
| NG_009250.1:g.71134C>G , LRG_309:g.71134C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.3228C>G MANE Select | ENSP00000257290.5:p.Ile1076Met | |
| ENST00000257290.9:c.3228C>G | ENSP00000257290.5:p.Ile1076Met | |
| ENST00000507166.5:c.2508C>G | ENSP00000423325.1:p.Ile836Met | |
| NM_006206.4:c.3228C>G , LRG_309t1:c.3228C>G | NP_006197.1:p.Ile1076Met | |
| XM_005265743.1:c.3228C>G | XP_005265800.1:p.Ile1076Met | |
| XM_006714039.2:c.3303C>G | XP_006714102.1:p.Ile1101Met | |
| XM_011534385.1:c.3228C>G | XP_011532687.1:p.Ile1076Met | |
| XM_011534386.1:c.3228C>G | XP_011532688.1:p.Ile1076Met | |
| NM_001347828.1:c.3303C>G | NP_001334757.1:p.Ile1101Met | |
| NM_001347829.1:c.3228C>G | NP_001334758.1:p.Ile1076Met | |
| NM_001347830.1:c.3267C>G | NP_001334759.1:p.Ile1089Met | |
| NM_006206.5:c.3228C>G | NP_006197.1:p.Ile1076Met | |
| NM_006206.6:c.3228C>G MANE Select | NP_006197.1:p.Ile1076Met | |
| NM_001347828.2:c.3303C>G | NP_001334757.1:p.Ile1101Met | |
| NM_001347829.2:c.3228C>G | NP_001334758.1:p.Ile1076Met | |
| NM_001347830.2:c.3267C>G | NP_001334759.1:p.Ile1089Met |