Linked Data
ClinVar Variation Id:
134837
dbSNP Id:
rs546510242
ExAC:
1:43812198 A / G
gnomAD v2:
1-43812198-A-G
gnomAD v3:
1-43346527-A-G
gnomAD v4:
1-43346527-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43346527A>G , CM000663.2:g.43346527A>G | GRCh38 |
| NC_000001.10:g.43812198A>G , CM000663.1:g.43812198A>G | GRCh37 |
| NC_000001.9:g.43584785A>G | NCBI36 |
| NG_007525.1:g.13724A>G , LRG_510:g.13724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1063A>G MANE Select | ENSP00000361548.3:p.Lys355Glu | |
| ENST00000413998.7:c.1042A>G | ENSP00000414004.3:p.Lys348Glu | |
| ENST00000638732.1:n.1063A>G | ||
| ENST00000372470.7:c.1063A>G | ENSP00000361548.3:p.Lys355Glu | |
| ENST00000413998.6:c.1063A>G | ENSP00000414004.2:p.Lys355Glu | |
| ENST00000612993.1:c.1063A>G | ENSP00000480273.1:p.Lys355Glu | |
| NM_005373.2:c.1063A>G , LRG_510t1:c.1063A>G | NP_005364.1:p.Lys355Glu | |
| XM_011541478.1:c.1042A>G | XP_011539780.1:p.Lys348Glu | |
| XM_017001320.1:c.1234A>G | XP_016856809.1:p.Lys412Glu | |
| NM_005373.3:c.1063A>G MANE Select | NP_005364.1:p.Lys355Glu |