Linked Data
ClinVar Variation Id:
36291
ClinVar RCV Id:
RCV000029956
RCV000755548
RCV001104362
RCV001104361
RCV001104363
RCV001420720
RCV002272029
dbSNP Id:
rs63750628
ExAC:
11:5248282 G / A
gnomAD v2:
11-5248282-G-A
gnomAD v3:
11-5227052-G-A
gnomAD v4:
11-5227052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227052G>A , CM000673.2:g.5227052G>A | GRCh38 |
| NC_000011.9:g.5248282G>A , CM000673.1:g.5248282G>A | GRCh37 |
| NC_000011.8:g.5204858G>A | NCBI36 |
| NG_000007.3:g.70564C>T | |
| NG_059281.1:g.5020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-31C>T | ENSP00000494175.1:n.-31C>T | |
| ENST00000335295.4:c.-31C>T MANE Select | ENSP00000333994.3:n.-31C>T | |
| ENST00000380315.2:c.-18-13C>T | ENSP00000369671.2:n.-18-13C>T | |
| ENST00000485743.1:n.21C>T | ||
| ENST00000633227.1:c.-31C>T | ENSP00000488004.1:n.-31C>T | |
| NM_000518.4:c.-31C>T | NP_000509.1:n.-31C>T | |
| NM_000518.5:c.-31C>T MANE Select | NP_000509.1:n.-31C>T |