Linked Data
ClinVar Variation Id:
2938198
ClinVar RCV Id:
RCV003797020
dbSNP Id:
rs767831311
ExAC:
11:47463298 G / A
gnomAD v4:
11-47441746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441746G>A , CM000673.2:g.47441746G>A | GRCh38 |
| NC_000011.9:g.47463298G>A , CM000673.1:g.47463298G>A | GRCh37 |
| NC_000011.8:g.47419874G>A | NCBI36 |
| NG_008312.1:g.12433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.790-13C>T MANE Select | ENSP00000298854.2:n.790-13C>T | |
| ENST00000298854.6:c.790-13C>T | ENSP00000298854.2:n.790-13C>T | |
| ENST00000352508.7:c.789+77C>T | ENSP00000298853.3:n.789+77C>T | |
| ENST00000524487.5:c.631-13C>T | ENSP00000435551.2:n.631-13C>T | |
| ENST00000529341.1:c.789+77C>T | ENSP00000431732.1:n.789+77C>T | |
| NM_005055.4:c.790-13C>T | NP_005046.2:n.790-13C>T | |
| NM_032645.4:c.789+77C>T | NP_116034.2:n.789+77C>T | |
| XM_005253042.2:c.790-13C>T | XP_005253099.1:n.790-13C>T | |
| XM_005253043.2:c.789+77C>T | XP_005253100.1:n.789+77C>T | |
| XM_011520252.1:c.790-13C>T | XP_011518554.1:n.790-13C>T | |
| XM_011520253.1:c.790-13C>T | XP_011518555.1:n.790-13C>T | |
| XM_005253042.3:c.790-13C>T | XP_005253099.1:n.790-13C>T | |
| XM_005253043.3:c.789+77C>T | XP_005253100.1:n.789+77C>T | |
| NM_005055.5:c.790-13C>T MANE Select | NP_005046.2:n.790-13C>T | |
| NM_032645.5:c.789+77C>T | NP_116034.2:n.789+77C>T |