Linked Data
dbSNP Id:
rs528026040
ExAC:
4:186066172 C / T
gnomAD v2:
4-186066172-C-T
gnomAD v3:
4-185145018-C-T
gnomAD v4:
4-185145018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145018C>T , CM000666.2:g.185145018C>T | GRCh38 |
| NC_000004.11:g.186066172C>T , CM000666.1:g.186066172C>T | GRCh37 |
| NC_000004.10:g.186303166C>T | NCBI36 |
| NG_013001.1:g.6756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.366C>T MANE Select | ENSP00000281456.5:p.Ala122= | |
| ENST00000281456.10:c.366C>T | ENSP00000281456.5:p.Ala122= | |
| ENST00000491736.1:c.366C>T | ENSP00000476711.1:p.Ala122= | |
| NM_001151.3:c.366C>T | NP_001142.2:p.Ala122= | |
| NM_001151.4:c.366C>T MANE Select | NP_001142.2:p.Ala122= |