Linked Data
ClinVar Variation Id:
194206
dbSNP Id:
rs150777198
ExAC:
11:46914670 A / G
gnomAD v2:
11-46914670-A-G
gnomAD v3:
11-46893119-A-G
gnomAD v4:
11-46893119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46893119A>G , CM000673.2:g.46893119A>G | GRCh38 |
| NC_000011.9:g.46914670A>G , CM000673.1:g.46914670A>G | GRCh37 |
| NC_000011.8:g.46871246A>G | NCBI36 |
| NG_021394.1:g.30504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.1551T>C MANE Select | ENSP00000367888.1:p.Ala517= | |
| ENST00000378623.5:c.1551T>C | ENSP00000367888.1:p.Ala517= | |
| NM_002334.3:c.1551T>C | NP_002325.2:p.Ala517= | |
| XM_011520102.1:c.1764T>C | XP_011518404.1:p.Ala588= | |
| XM_011520103.1:c.747T>C | XP_011518405.1:p.Ala249= | |
| XM_011520103.2:c.747T>C | XP_011518405.1:p.Ala249= | |
| XM_017017734.1:c.1551T>C | XP_016873223.1:p.Ala517= | |
| NM_002334.4:c.1551T>C MANE Select | NP_002325.2:p.Ala517= |