Linked Data
ClinVar Variation Id:
2929233
ClinVar RCV Id:
RCV003781959
dbSNP Id:
rs1198546329
gnomAD v2:
11-47463178-C-T
gnomAD v3:
11-47441626-C-T
gnomAD v4:
11-47441626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441626C>T , CM000673.2:g.47441626C>T | GRCh38 |
| NC_000011.9:g.47463178C>T , CM000673.1:g.47463178C>T | GRCh37 |
| NC_000011.8:g.47419754C>T | NCBI36 |
| NG_008312.1:g.12553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.897G>A MANE Select | ENSP00000298854.2:p.Arg299= | |
| ENST00000298854.6:c.897G>A | ENSP00000298854.2:p.Arg299= | |
| ENST00000352508.7:c.789+197G>A | ENSP00000298853.3:n.789+197G>A | |
| ENST00000524487.5:c.738G>A | ENSP00000435551.2:p.Arg246= | |
| ENST00000528356.1:n.106G>A | ||
| ENST00000529341.1:c.789+197G>A | ENSP00000431732.1:n.789+197G>A | |
| NM_005055.4:c.897G>A | NP_005046.2:p.Arg299= | |
| NM_032645.4:c.789+197G>A | NP_116034.2:n.789+197G>A | |
| XM_005253042.2:c.897G>A | XP_005253099.1:p.Arg299= | |
| XM_005253043.2:c.789+197G>A | XP_005253100.1:n.789+197G>A | |
| XM_011520252.1:c.897G>A | XP_011518554.1:p.Arg299= | |
| XM_011520253.1:c.897G>A | XP_011518555.1:p.Arg299= | |
| XM_005253042.3:c.897G>A | XP_005253099.1:p.Arg299= | |
| XM_005253043.3:c.789+197G>A | XP_005253100.1:n.789+197G>A | |
| NM_005055.5:c.897G>A MANE Select | NP_005046.2:p.Arg299= | |
| NM_032645.5:c.789+197G>A | NP_116034.2:n.789+197G>A |