Linked Data
ClinVar Variation Id:
120171
ClinVar RCV Id:
RCV000106294
dbSNP Id:
rs2279343
ExAC:
19:41515263 A / G
gnomAD v2:
19-41515263-A-G
gnomAD v3:
19-41009358-A-G
gnomAD v4:
19-41009358-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41009358A>G , CM000681.2:g.41009358A>G | GRCh38 |
| NC_000019.9:g.41515263A>G , CM000681.1:g.41515263A>G | GRCh37 |
| NC_000019.8:g.46207103A>G | NCBI36 |
| NG_007929.1:g.23060A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.785A>G MANE Select | ENSP00000324648.2:p.Lys262Arg | |
| ENST00000598834.2:c.809A>G | ||
| ENST00000324071.8:c.785A>G | ENSP00000324648.2:p.Lys262Arg | |
| ENST00000593831.1:c.257-2940A>G | ENSP00000470582.1:n.257-2940A>G | |
| NM_000767.4:c.785A>G | NP_000758.1:p.Lys262Arg | |
| XM_005258569.3:c.785A>G | XP_005258626.1:p.Lys262Arg | |
| XM_006723050.2:c.785A>G | XP_006723113.1:p.Lys262Arg | |
| XM_011526546.1:c.785A>G | XP_011524848.1:p.Lys262Arg | |
| XM_011526547.1:c.785A>G | XP_011524849.1:p.Lys262Arg | |
| XM_011526548.1:c.485-2940A>G | XP_011524850.1:n.485-2940A>G | |
| XM_011526549.1:c.194A>G | XP_011524851.1:p.Lys65Arg | |
| XM_011526550.1:c.365-2940A>G | XP_011524852.1:n.365-2940A>G | |
| NM_000767.5:c.785A>G MANE Select | NP_000758.1:p.Lys262Arg |