Linked Data
ClinVar Variation Id:
378940
ClinVar RCV Id:
RCV000423837
dbSNP Id:
rs746542705
ExAC:
11:47364300 C / T
gnomAD v2:
11-47364300-C-T
gnomAD v3:
11-47342749-C-T
gnomAD v4:
11-47342749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342749C>T , CM000673.2:g.47342749C>T | GRCh38 |
| NC_000011.9:g.47364300C>T , CM000673.1:g.47364300C>T | GRCh37 |
| NC_000011.8:g.47320876C>T | NCBI36 |
| NG_007667.1:g.14954G>A , LRG_386:g.14954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1458-5G>A MANE Select | ENSP00000442795.1:n.1458-5G>A | |
| ENST00000256993.8:c.1458-5G>A | ENSP00000256993.5:n.1458-5G>A | |
| ENST00000399249.6:c.1458-5G>A | ENSP00000382193.2:n.1458-5G>A | |
| ENST00000544791.1:c.1458-5G>A | ENSP00000444259.1:n.1458-5G>A | |
| ENST00000545968.5:c.1458-5G>A | ENSP00000442795.1:n.1458-5G>A | |
| NM_000256.3:c.1458-5G>A , LRG_386t1:c.1458-5G>A MANE Select | NP_000247.2:n.1458-5G>A | |
| XM_011520117.1:c.1440-5G>A | XP_011518419.1:n.1440-5G>A | |
| XM_011520118.1:c.1458-5G>A | XP_011518420.1:n.1458-5G>A |