Linked Data
ClinVar Variation Id:
219547
dbSNP Id:
rs113012271
ExAC:
11:128781993 C / A
gnomAD v2:
11-128781993-C-A
gnomAD v3:
11-128912098-C-A
gnomAD v4:
11-128912098-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128912098C>A , CM000673.2:g.128912098C>A | GRCh38 |
| NC_000011.9:g.128781993C>A , CM000673.1:g.128781993C>A | GRCh37 |
| NC_000011.8:g.128287203C>A | NCBI36 |
| NG_023406.2:g.25681C>A , LRG_333:g.25681C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529694.6:c.825C>A MANE Select | ENSP00000433295.1:p.Ile275= | |
| ENST00000338350.4:c.825C>A | ENSP00000339960.4:p.Ile275= | |
| ENST00000529694.5:c.825C>A | ENSP00000433295.1:p.Ile275= | |
| ENST00000533599.1:c.825C>A | ENSP00000434266.1:p.Ile275= | |
| NM_000890.3:c.825C>A , LRG_333t1:c.825C>A | NP_000881.3:p.Ile275= | |
| XM_011542809.1:c.825C>A | XP_011541111.1:p.Ile275= | |
| XM_011542810.1:c.825C>A | XP_011541112.1:p.Ile275= | |
| NM_000890.4:c.825C>A | NP_000881.3:p.Ile275= | |
| NM_001354169.1:c.825C>A | NP_001341098.1:p.Ile275= | |
| XM_011542809.2:c.825C>A | XP_011541111.1:p.Ile275= | |
| XM_011542810.3:c.825C>A | XP_011541112.1:p.Ile275= | |
| NM_000890.5:c.825C>A MANE Select | NP_000881.3:p.Ile275= | |
| NM_001354169.2:c.825C>A | NP_001341098.1:p.Ile275= |