Linked Data
ClinVar Variation Id:
732506
ClinVar RCV Id:
RCV000907662
dbSNP Id:
rs144536868
ExAC:
3:13896212 G / A
gnomAD v2:
3-13896212-G-A
gnomAD v3:
3-13854715-G-A
gnomAD v4:
3-13854715-G-A
COSMIC:
COSM3124242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854715G>A , CM000665.2:g.13854715G>A | GRCh38 |
| NC_000003.11:g.13896212G>A , CM000665.1:g.13896212G>A | GRCh37 |
| NC_000003.10:g.13871213G>A | NCBI36 |
| NG_008088.1:g.30407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.387C>T MANE Select | ENSP00000285018.4:p.Ser129= | |
| ENST00000285018.4:c.387C>T | ENSP00000285018.4:p.Ser129= | |
| NM_004625.3:c.387C>T | NP_004616.2:p.Ser129= | |
| XM_011534090.1:c.186C>T | XP_011532392.1:p.Ser62= | |
| XM_011534091.1:c.186C>T | XP_011532393.1:p.Ser62= | |
| XM_011534091.2:c.186C>T | XP_011532393.1:p.Ser62= | |
| NM_004625.4:c.387C>T MANE Select | NP_004616.2:p.Ser129= |