Linked Data
ClinVar Variation Id:
2196124
ClinVar RCV Id:
RCV002633427
dbSNP Id:
rs199887868
ExAC:
4:186066160 G / T
gnomAD v2:
4-186066160-G-T
gnomAD v3:
4-185145006-G-T
gnomAD v4:
4-185145006-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145006G>T , CM000666.2:g.185145006G>T | GRCh38 |
| NC_000004.11:g.186066160G>T , CM000666.1:g.186066160G>T | GRCh37 |
| NC_000004.10:g.186303154G>T | NCBI36 |
| NG_013001.1:g.6744G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.354G>T MANE Select | ENSP00000281456.5:p.Ala118= | |
| ENST00000281456.10:c.354G>T | ENSP00000281456.5:p.Ala118= | |
| ENST00000491736.1:c.354G>T | ENSP00000476711.1:p.Ala118= | |
| NM_001151.3:c.354G>T | NP_001142.2:p.Ala118= | |
| NM_001151.4:c.354G>T MANE Select | NP_001142.2:p.Ala118= |