Linked Data
dbSNP Id:
rs774100540
ExAC:
17:42429017 A / G
gnomAD v2:
17-42429017-A-G
gnomAD v3:
17-44351649-A-G
gnomAD v4:
17-44351649-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351649A>G , CM000679.2:g.44351649A>G | GRCh38 |
| NC_000017.10:g.42429017A>G , CM000679.1:g.42429017A>G | GRCh37 |
| NC_000017.9:g.39784543A>G | NCBI36 |
| NG_007886.1:g.11527A>G , LRG_661:g.11527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1033A>G MANE Select | ENSP00000053867.2:p.Met345Val | |
| ENST00000639447.1:c.1033A>G | ENSP00000492014.1:p.Met345Val | |
| ENST00000053867.7:c.1033A>G | ENSP00000053867.2:p.Met345Val | |
| ENST00000586443.1:c.474A>G | ||
| ENST00000589265.5:c.562A>G | ENSP00000467616.1:p.Met188Val | |
| ENST00000589923.1:n.291A>G | ||
| NM_002087.3:c.1033A>G | NP_002078.1:p.Met345Val | |
| XM_005257253.1:c.1033A>G | XP_005257310.1:p.Met345Val | |
| XM_024450730.1:c.1033A>G | XP_024306498.1:p.Met345Val | |
| NM_002087.4:c.1033A>G MANE Select | NP_002078.1:p.Met345Val |