Linked Data
ClinVar Variation Id:
15239
ClinVar RCV Id:
RCV000016439
RCV000016440
RCV000016441
RCV000169609
RCV000780311
RCV001004353
RCV000757368
RCV003992156
dbSNP Id:
rs35424040
ExAC:
11:5248170 C / A
gnomAD v2:
11-5248170-C-A
gnomAD v3:
11-5226940-C-A
gnomAD v4:
11-5226940-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226940C>A , CM000673.2:g.5226940C>A | GRCh38 |
| NC_000011.9:g.5248170C>A , CM000673.1:g.5248170C>A | GRCh37 |
| NC_000011.8:g.5204746C>A | NCBI36 |
| NG_000007.3:g.70676G>T | |
| NG_059281.1:g.5132G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.82G>T | ENSP00000494175.1:p.Ala28Ser | |
| ENST00000335295.4:c.82G>T MANE Select | ENSP00000333994.3:p.Ala28Ser | |
| ENST00000380315.2:c.82G>T | ENSP00000369671.2:p.Ala28Ser | |
| ENST00000485743.1:n.133G>T | ||
| ENST00000633227.1:c.76+6G>T | ENSP00000488004.1:n.76+6G>T | |
| NM_000518.4:c.82G>T | NP_000509.1:p.Ala28Ser | |
| NM_000518.5:c.82G>T MANE Select | NP_000509.1:p.Ala28Ser |