Linked Data
ClinVar Variation Id:
211405
dbSNP Id:
rs61746928
ExAC:
11:46897115 G / T
gnomAD v2:
11-46897115-G-T
gnomAD v3:
11-46875564-G-T
gnomAD v4:
11-46875564-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46875564G>T , CM000673.2:g.46875564G>T | GRCh38 |
| NC_000011.9:g.46897115G>T , CM000673.1:g.46897115G>T | GRCh37 |
| NC_000011.8:g.46853691G>T | NCBI36 |
| NG_021394.1:g.48059C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3817C>A MANE Select | ENSP00000367888.1:p.Arg1273= | |
| ENST00000378623.5:c.3817C>A | ENSP00000367888.1:p.Arg1273= | |
| NM_002334.3:c.3817C>A | NP_002325.2:p.Arg1273= | |
| XM_011520102.1:c.4030C>A | XP_011518404.1:p.Arg1344= | |
| XM_011520103.1:c.3013C>A | XP_011518405.1:p.Arg1005= | |
| XM_011520104.1:c.1582C>A | XP_011518406.1:p.Arg528= | |
| XM_011520103.2:c.3013C>A | XP_011518405.1:p.Arg1005= | |
| XM_011520104.2:c.1582C>A | XP_011518406.1:p.Arg528= | |
| XM_017017734.1:c.3817C>A | XP_016873223.1:p.Arg1273= | |
| NM_002334.4:c.3817C>A MANE Select | NP_002325.2:p.Arg1273= |