Linked Data
ClinVar Variation Id:
5269
ClinVar RCV Id:
RCV003761735
dbSNP Id:
rs2303067
ExAC:
5:147480955 A / G
gnomAD v2:
5-147480955-A-G
gnomAD v3:
5-148101392-A-G
gnomAD v4:
5-148101392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148101392A>G , CM000667.2:g.148101392A>G | GRCh38 |
| NC_000005.9:g.147480955A>G , CM000667.1:g.147480955A>G | GRCh37 |
| NC_000005.8:g.147461148A>G | NCBI36 |
| NG_009633.1:g.42421A>G , LRG_110:g.42421A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481286.6:n.867A>G | ||
| ENST00000256084.8:c.1258A>G MANE Select | ENSP00000256084.7:p.Lys420Glu | |
| ENST00000256084.7:c.1258A>G | ENSP00000256084.7:p.Lys420Glu | |
| ENST00000359874.7:c.1258A>G | ENSP00000352936.3:p.Lys420Glu | |
| ENST00000398454.5:c.1258A>G | ENSP00000381472.1:p.Lys420Glu | |
| ENST00000476608.1:n.774A>G | ||
| ENST00000507988.5:n.1422A>G | ||
| ENST00000508733.5:c.1201A>G | ENSP00000421519.1:p.Lys401Glu | |
| NM_001127698.1:c.1258A>G | NP_001121170.1:p.Lys420Glu | |
| NM_001127699.1:c.1258A>G | NP_001121171.1:p.Lys420Glu | |
| NM_006846.3:c.1258A>G , LRG_110t1:c.1258A>G | NP_006837.2:p.Lys420Glu | |
| XM_011537550.1:c.1201A>G | XP_011535852.1:p.Lys401Glu | |
| XM_011537551.1:c.1174A>G | XP_011535853.1:p.Lys392Glu | |
| XM_011537551.2:c.1174A>G | XP_011535853.1:p.Lys392Glu | |
| NM_001127698.2:c.1258A>G | NP_001121170.1:p.Lys420Glu | |
| NM_001127699.2:c.1258A>G | NP_001121171.1:p.Lys420Glu | |
| NM_006846.4:c.1258A>G MANE Select | NP_006837.2:p.Lys420Glu |