Linked Data
ClinVar Variation Id:
15454
ClinVar RCV Id:
RCV000016712
RCV000020343
RCV000030008
RCV000763251
RCV000799079
RCV001004346
RCV001262998
RCV002288504
RCV002371775
dbSNP Id:
rs35004220
ExAC:
11:5248050 C / T
gnomAD v2:
11-5248050-C-T
gnomAD v3:
11-5226820-C-T
gnomAD v4:
11-5226820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226820C>T , CM000673.2:g.5226820C>T | GRCh38 |
| NC_000011.9:g.5248050C>T , CM000673.1:g.5248050C>T | GRCh37 |
| NC_000011.8:g.5204626C>T | NCBI36 |
| NG_000007.3:g.70796G>A | |
| NG_059281.1:g.5252G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.93-21G>A | ENSP00000494175.1:n.93-21G>A | |
| ENST00000335295.4:c.93-21G>A MANE Select | ENSP00000333994.3:n.93-21G>A | |
| ENST00000380315.2:c.93-21G>A | ENSP00000369671.2:n.93-21G>A | |
| ENST00000475226.1:n.4G>A | ||
| ENST00000485743.1:n.144-21G>A | ||
| ENST00000633227.1:c.77-21G>A | ENSP00000488004.1:n.77-21G>A | |
| NM_000518.4:c.93-21G>A | NP_000509.1:n.93-21G>A | |
| NM_000518.5:c.93-21G>A MANE Select | NP_000509.1:n.93-21G>A |