Linked Data
ClinVar Variation Id:
424062
ClinVar RCV Id:
RCV000486341
dbSNP Id:
rs1064796776
gnomAD v4:
11-118494755-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118494755A>G , CM000673.2:g.118494755A>G | GRCh38 |
| NC_000011.9:g.118365470A>G , CM000673.1:g.118365470A>G | GRCh37 |
| NC_000011.8:g.117870680A>G | NCBI36 |
| NG_027813.1:g.63266A>G , LRG_613:g.63266A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531904.7:c.5450A>G | ENSP00000432391.3:p.Lys1817Arg | |
| ENST00000710560.1:c.5441A>G | ENSP00000518343.1:p.Lys1814Arg | |
| ENST00000688355.1:c.476A>G | ||
| ENST00000691002.1:c.291A>G | ||
| ENST00000691053.1:c.5342A>G | ENSP00000509168.1:p.Lys1781Arg | |
| ENST00000693536.1:c.291A>G | ||
| ENST00000389506.10:c.5342A>G | ENSP00000374157.5:p.Lys1781Arg | |
| ENST00000534358.8:c.5351A>G MANE Select | ENSP00000436786.2:p.Lys1784Arg | |
| ENST00000649699.1:c.5228A>G | ENSP00000496927.1:p.Lys1743Arg | |
| ENST00000389506.9:c.5342A>G | ENSP00000374157.5:p.Lys1781Arg | |
| ENST00000534358.5:c.5351A>G | ENSP00000436786.1:p.Lys1784Arg | |
| NM_001197104.1:c.5351A>G , LRG_613t1:c.5351A>G | NP_001184033.1:p.Lys1784Arg | |
| NM_005933.3:c.5342A>G | NP_005924.2:p.Lys1781Arg | |
| XM_006718839.2:c.2834A>G | XP_006718902.2:p.Lys945Arg | |
| XM_011542829.1:c.5450A>G | XP_011541131.1:p.Lys1817Arg | |
| XM_011542830.1:c.5447A>G | XP_011541132.1:p.Lys1816Arg | |
| XM_011542831.1:c.5441A>G | XP_011541133.1:p.Lys1814Arg | |
| XM_011542832.1:c.3257A>G | XP_011541134.1:p.Lys1086Arg | |
| XM_011542833.1:c.2933A>G | XP_011541135.1:p.Lys978Arg | |
| XM_006718839.3:c.2834A>G | XP_006718902.2:p.Lys945Arg | |
| XM_011542829.2:c.5450A>G | XP_011541131.1:p.Lys1817Arg | |
| XM_011542830.2:c.5447A>G | XP_011541132.1:p.Lys1816Arg | |
| XM_011542831.2:c.5441A>G | XP_011541133.1:p.Lys1814Arg | |
| XM_011542833.2:c.2933A>G | XP_011541135.1:p.Lys978Arg | |
| NM_001197104.2:c.5351A>G MANE Select | NP_001184033.1:p.Lys1784Arg | |
| NM_005933.4:c.5342A>G | NP_005924.2:p.Lys1781Arg |