Linked Data
ClinVar Variation Id:
2643019
ClinVar RCV Id:
RCV003391840
dbSNP Id:
rs772734398
ExAC:
12:52845430 G / A
gnomAD v2:
12-52845430-G-A
gnomAD v3:
12-52451646-G-A
gnomAD v4:
12-52451646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451646G>A , CM000674.2:g.52451646G>A | GRCh38 |
| NC_000012.11:g.52845430G>A , CM000674.1:g.52845430G>A | GRCh37 |
| NC_000012.10:g.51131697G>A | NCBI36 |
| NG_008299.1:g.5481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.433C>T MANE Select | ENSP00000252252.3:p.Leu145= | |
| ENST00000252252.3:c.433C>T | ENSP00000252252.3:p.Leu145= | |
| NM_005555.3:c.433C>T | NP_005546.2:p.Leu145= | |
| NM_005555.4:c.433C>T MANE Select | NP_005546.2:p.Leu145= |