Linked Data
ClinVar Variation Id:
1002108
ClinVar RCV Id:
RCV001298485
dbSNP Id:
rs753040489
ExAC:
9:138662145 G / A
gnomAD v2:
9-138662145-G-A
gnomAD v4:
9-135770299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770299G>A , CM000671.2:g.135770299G>A | GRCh38 |
| NC_000009.11:g.138662145G>A , CM000671.1:g.138662145G>A | GRCh37 |
| NC_000009.10:g.137801966G>A | NCBI36 |
| NG_033070.1:g.73115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1621G>A MANE Select | ENSP00000360822.2:p.Glu541Lys | |
| ENST00000674572.1:c.1462G>A | ENSP00000501742.1:p.Glu488Lys | |
| ENST00000675090.1:c.1369G>A | ENSP00000501833.1:p.Glu457Lys | |
| ENST00000675399.1:c.1369G>A | ENSP00000501932.1:p.Glu457Lys | |
| ENST00000676421.1:c.1378G>A | ENSP00000502322.1:p.Glu460Lys | |
| ENST00000263604.5:c.1522G>A | ENSP00000263604.4:p.Glu508Lys | |
| ENST00000371757.6:c.1621G>A | ENSP00000360822.2:p.Glu541Lys | |
| ENST00000460750.5:c.*1231G>A | ENSP00000418777.1:n.*1231G>A | |
| ENST00000486577.6:c.1504G>A | ENSP00000417578.3:p.Glu502Lys | |
| ENST00000487664.5:c.1621G>A | ENSP00000417851.2:p.Glu541Lys | |
| ENST00000488444.6:c.1564G>A | ENSP00000419007.3:p.Glu522Lys | |
| ENST00000490355.6:c.1564G>A | ENSP00000418003.3:p.Glu522Lys | |
| ENST00000490363.3:n.1440G>A | ||
| ENST00000491806.6:c.1564G>A | ENSP00000419086.3:p.Glu522Lys | |
| ENST00000628528.2:c.1486G>A | ENSP00000486374.1:p.Glu496Lys | |
| ENST00000630792.2:c.1462G>A | ENSP00000486486.1:p.Glu488Lys | |
| ENST00000631073.2:c.1564G>A | ENSP00000486130.1:p.Glu522Lys | |
| NM_001272003.1:c.1486G>A | NP_001258932.1:p.Glu496Lys | |
| NM_020822.2:c.1621G>A | NP_065873.2:p.Glu541Lys | |
| XM_011518877.1:c.1756G>A | XP_011517179.1:p.Glu586Lys | |
| XM_011518878.1:c.1765G>A | XP_011517180.1:p.Glu589Lys | |
| XM_011518879.1:c.1756G>A | XP_011517181.1:p.Glu586Lys | |
| XM_011518880.1:c.1522G>A | XP_011517182.1:p.Glu508Lys | |
| XM_011518881.1:c.1111G>A | XP_011517183.1:p.Glu371Lys | |
| XM_011518877.3:c.1756G>A | XP_011517179.1:p.Glu586Lys | |
| XM_011518878.3:c.1765G>A | XP_011517180.1:p.Glu589Lys | |
| XM_011518879.3:c.1756G>A | XP_011517181.1:p.Glu586Lys | |
| XM_011518881.3:c.1111G>A | XP_011517183.1:p.Glu371Lys | |
| XM_017014931.1:c.1555G>A | XP_016870420.1:p.Glu519Lys | |
| XM_017014932.1:c.1378G>A | XP_016870421.1:p.Glu460Lys | |
| XM_017014933.1:c.1111G>A | XP_016870422.1:p.Glu371Lys | |
| XM_024447617.1:c.1111G>A | XP_024303385.1:p.Glu371Lys | |
| XM_024447618.1:c.1111G>A | XP_024303386.1:p.Glu371Lys | |
| NM_020822.3:c.1621G>A MANE Select | NP_065873.2:p.Glu541Lys | |
| NM_001272003.2:c.1486G>A | NP_001258932.1:p.Glu496Lys |