Linked Data
ClinVar Variation Id:
1753449
ClinVar RCV Id:
RCV002361692
dbSNP Id:
rs1014412473
gnomAD v2:
12-40745383-A-G
gnomAD v3:
12-40351581-A-G
gnomAD v4:
12-40351581-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40351581A>G , CM000674.2:g.40351581A>G | GRCh38 |
| NC_000012.11:g.40745383A>G , CM000674.1:g.40745383A>G | GRCh37 |
| NC_000012.10:g.39031650A>G | NCBI36 |
| NG_011709.1:g.131571A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.6424A>G MANE Select | ENSP00000298910.7:p.Arg2142Gly | |
| ENST00000636518.1:c.221A>G | ||
| ENST00000679360.1:c.*5333A>G | ENSP00000505368.1:n.*5333A>G | |
| ENST00000679532.1:c.2198A>G | ||
| ENST00000679683.1:c.214A>G | ||
| ENST00000680018.1:c.1869A>G | ENSP00000505347.1:n.1869A>G | |
| ENST00000680422.1:c.2069A>G | ||
| ENST00000680425.1:c.1591A>G | ENSP00000506459.1:n.1591A>G | |
| ENST00000680453.1:c.1881A>G | ||
| ENST00000680790.1:c.6169A>G | ENSP00000505335.1:p.Arg2057Gly | |
| ENST00000681136.1:n.2408A>G | ||
| ENST00000681696.1:c.2107A>G | ENSP00000505871.1:p.Arg703Gly | |
| ENST00000298910.11:c.6424A>G | ENSP00000298910.7:p.Arg2142Gly | |
| ENST00000430804.5:c.3720A>G | ||
| ENST00000479187.5:n.3105A>G | ||
| NM_198578.3:c.6424A>G | NP_940980.3:p.Arg2142Gly | |
| XM_005268629.2:c.6424A>G | XP_005268686.1:p.Arg2142Gly | |
| XM_011537877.1:c.6424A>G | XP_011536179.1:p.Arg2142Gly | |
| XM_011537878.1:c.6424A>G | XP_011536180.1:p.Arg2142Gly | |
| XM_011537879.1:c.5221A>G | XP_011536181.1:p.Arg1741Gly | |
| XM_005268629.4:c.6424A>G | XP_005268686.1:p.Arg2142Gly | |
| XM_011537877.3:c.6424A>G | XP_011536179.1:p.Arg2142Gly | |
| XM_017018787.1:c.3340A>G | XP_016874276.1:p.Arg1114Gly | |
| XM_017018788.2:c.2686A>G | XP_016874277.1:p.Arg896Gly | |
| XM_024448833.1:c.5221A>G | XP_024304601.1:p.Arg1741Gly | |
| NM_198578.4:c.6424A>G MANE Select | NP_940980.4:p.Arg2142Gly |