Linked Data
ClinVar Variation Id:
764103
ClinVar RCV Id:
RCV000942414
dbSNP Id:
rs377261145
ExAC:
12:52913979 G / A
gnomAD v2:
12-52913979-G-A
gnomAD v3:
12-52520195-G-A
gnomAD v4:
12-52520195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520195G>A , CM000674.2:g.52520195G>A | GRCh38 |
| NC_000012.11:g.52913979G>A , CM000674.1:g.52913979G>A | GRCh37 |
| NC_000012.10:g.51200246G>A | NCBI36 |
| NG_008297.1:g.5265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.102C>T MANE Select | ENSP00000252242.4:p.Ser34= | |
| ENST00000252242.8:c.102C>T | ENSP00000252242.4:p.Ser34= | |
| ENST00000546577.1:c.102C>T | ENSP00000449651.1:p.Ser34= | |
| ENST00000549420.1:c.43+59C>T | ENSP00000447209.1:n.43+59C>T | |
| ENST00000551275.1:c.102C>T | ENSP00000448041.1:p.Ser34= | |
| ENST00000552629.5:n.200C>T | ||
| NM_000424.3:c.102C>T | NP_000415.2:p.Ser34= | |
| NM_000424.4:c.102C>T MANE Select | NP_000415.2:p.Ser34= |