Linked Data
dbSNP Id:
rs1330911503
gnomAD v2:
11-68174192-G-A
gnomAD v3:
11-68406724-G-A
gnomAD v4:
11-68406724-G-A
COSMIC:
COSM1704309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68406724G>A , CM000673.2:g.68406724G>A | GRCh38 |
| NC_000011.9:g.68174192G>A , CM000673.1:g.68174192G>A | GRCh37 |
| NC_000011.8:g.67930768G>A | NCBI36 |
| NG_015835.1:g.99085G>A | |
| NG_015835.2:g.99085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.2002G>A MANE Select | ENSP00000294304.6:p.Ala668Thr | |
| ENST00000294304.11:c.2002G>A | ENSP00000294304.6:p.Ala668Thr | |
| ENST00000529993.5:c.*608G>A | ENSP00000436652.1:n.*608G>A | |
| NM_001291902.1:c.259G>A | NP_001278831.1:p.Ala87Thr | |
| NM_002335.3:c.2002G>A | NP_002326.2:p.Ala668Thr | |
| XM_005273994.2:c.2002G>A | XP_005274051.1:p.Ala668Thr | |
| XM_011545029.1:c.2029G>A | XP_011543331.1:p.Ala677Thr | |
| XM_011545030.1:c.2029G>A | XP_011543332.1:p.Ala677Thr | |
| XM_011545031.1:c.2029G>A | XP_011543333.1:p.Ala677Thr | |
| XR_949925.1:n.2044G>A | ||
| XR_949926.1:n.2044G>A | ||
| XM_017017735.1:c.259G>A | XP_016873224.1:p.Ala87Thr | |
| XR_001747874.1:n.2044G>A | ||
| XR_949925.2:n.2044G>A | ||
| XR_949926.2:n.2044G>A | ||
| NM_002335.4:c.2002G>A MANE Select | NP_002326.2:p.Ala668Thr | |
| NM_001291902.2:c.259G>A | NP_001278831.1:p.Ala87Thr |