Linked Data
ClinVar Variation Id:
2091713
ClinVar RCV Id:
RCV002991679
dbSNP Id:
rs1198578005
gnomAD v3:
11-47441698-G-A
gnomAD v4:
11-47441698-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441698G>A , CM000673.2:g.47441698G>A | GRCh38 |
| NC_000011.9:g.47463250G>A , CM000673.1:g.47463250G>A | GRCh37 |
| NC_000011.8:g.47419826G>A | NCBI36 |
| NG_008312.1:g.12481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.825C>T MANE Select | ENSP00000298854.2:p.Ile275= | |
| ENST00000298854.6:c.825C>T | ENSP00000298854.2:p.Ile275= | |
| ENST00000352508.7:c.789+125C>T | ENSP00000298853.3:n.789+125C>T | |
| ENST00000524487.5:c.666C>T | ENSP00000435551.2:p.Ile222= | |
| ENST00000528356.1:n.34C>T | ||
| ENST00000529341.1:c.789+125C>T | ENSP00000431732.1:n.789+125C>T | |
| NM_005055.4:c.825C>T | NP_005046.2:p.Ile275= | |
| NM_032645.4:c.789+125C>T | NP_116034.2:n.789+125C>T | |
| XM_005253042.2:c.825C>T | XP_005253099.1:p.Ile275= | |
| XM_005253043.2:c.789+125C>T | XP_005253100.1:n.789+125C>T | |
| XM_011520252.1:c.825C>T | XP_011518554.1:p.Ile275= | |
| XM_011520253.1:c.825C>T | XP_011518555.1:p.Ile275= | |
| XM_005253042.3:c.825C>T | XP_005253099.1:p.Ile275= | |
| XM_005253043.3:c.789+125C>T | XP_005253100.1:n.789+125C>T | |
| NM_005055.5:c.825C>T MANE Select | NP_005046.2:p.Ile275= | |
| NM_032645.5:c.789+125C>T | NP_116034.2:n.789+125C>T |