Linked Data
ClinVar Variation Id:
2152119
ClinVar RCV Id:
RCV003079126
dbSNP Id:
rs762014835
ExAC:
11:68201169 A / G
gnomAD v2:
11-68201169-A-G
gnomAD v3:
11-68433701-A-G
gnomAD v4:
11-68433701-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68433701A>G , CM000673.2:g.68433701A>G | GRCh38 |
| NC_000011.9:g.68201169A>G , CM000673.1:g.68201169A>G | GRCh37 |
| NC_000011.8:g.67957745A>G | NCBI36 |
| NG_015835.1:g.126062A>G | |
| NG_015835.2:g.126062A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.3863A>G MANE Select | ENSP00000294304.6:p.Asp1288Gly | |
| ENST00000294304.11:c.3863A>G | ENSP00000294304.6:p.Asp1288Gly | |
| ENST00000529993.5:c.*2469A>G | ENSP00000436652.1:n.*2469A>G | |
| NM_001291902.1:c.2120A>G | NP_001278831.1:p.Asp707Gly | |
| NM_002335.3:c.3863A>G | NP_002326.2:p.Asp1288Gly | |
| XM_005273994.2:c.3863A>G | XP_005274051.1:p.Asp1288Gly | |
| XM_011545029.1:c.3890A>G | XP_011543331.1:p.Asp1297Gly | |
| XM_011545030.1:c.3890A>G | XP_011543332.1:p.Asp1297Gly | |
| XM_011545031.1:c.3890A>G | XP_011543333.1:p.Asp1297Gly | |
| XR_949925.1:n.3905A>G | ||
| XR_949926.1:n.3905A>G | ||
| XM_017017735.1:c.2120A>G | XP_016873224.1:p.Asp707Gly | |
| XM_017017736.1:c.1403A>G | XP_016873225.1:p.Asp468Gly | |
| XR_949925.2:n.3905A>G | ||
| XR_949926.2:n.3905A>G | ||
| NM_002335.4:c.3863A>G MANE Select | NP_002326.2:p.Asp1288Gly | |
| NM_001291902.2:c.2120A>G | NP_001278831.1:p.Asp707Gly |