Linked Data
ClinVar Variation Id:
297461
ClinVar RCV Id:
RCV000354489
dbSNP Id:
rs143180539
ExAC:
1:45480167 G / A
gnomAD v2:
1-45480167-G-A
gnomAD v4:
1-45014495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45014495G>A , CM000663.2:g.45014495G>A | GRCh38 |
| NC_000001.10:g.45480167G>A , CM000663.1:g.45480167G>A | GRCh37 |
| NC_000001.9:g.45252754G>A | NCBI36 |
| NG_007122.2:g.7338G>A | |
| NG_033058.1:g.1861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.693G>A MANE Select | ENSP00000246337.4:p.Lys231= | |
| ENST00000434478.6:c.747G>A | ENSP00000404489.2:p.Lys249= | |
| ENST00000491773.6:c.532-241G>A | ENSP00000498551.1:n.532-241G>A | |
| ENST00000636293.1:c.637-241G>A | ENSP00000490710.1:n.637-241G>A | |
| ENST00000636836.1:c.693G>A | ENSP00000490594.1:p.Lys231= | |
| ENST00000651476.1:c.588G>A | ENSP00000498668.1:p.Lys196= | |
| ENST00000652165.1:c.532-241G>A | ENSP00000498295.1:n.532-241G>A | |
| ENST00000652287.1:c.630G>A | ENSP00000498413.1:p.Lys210= | |
| ENST00000652514.1:c.654G>A | ENSP00000498635.1:n.654G>A | |
| ENST00000246337.8:c.693G>A | ENSP00000246337.4:p.Lys231= | |
| ENST00000428106.1:c.511G>A | ||
| ENST00000462688.5:n.820G>A | ||
| ENST00000469548.5:n.889G>A | ||
| ENST00000472254.1:n.446G>A | ||
| ENST00000478467.5:n.696G>A | ||
| ENST00000486699.5:n.813G>A | ||
| ENST00000491300.5:n.812G>A | ||
| ENST00000494399.5:n.1201G>A | ||
| NM_000374.4:c.693G>A | NP_000365.3:p.Lys231= | |
| NR_036510.1:n.876G>A | ||
| XM_005271169.1:c.477G>A | XP_005271226.1:p.Lys159= | |
| XM_005271170.1:c.477G>A | XP_005271227.1:p.Lys159= | |
| XM_011542080.1:c.630G>A | XP_011540382.1:p.Lys210= | |
| XM_011542081.1:c.525G>A | XP_011540383.1:p.Lys175= | |
| NM_000374.5:c.693G>A MANE Select | NP_000365.3:p.Lys231= | |
| NR_158184.1:n.774G>A | ||
| NR_158185.1:n.724G>A | ||
| NR_036510.2:n.755G>A |