Linked Data
dbSNP Id:
rs12742393
gnomAD v2:
1-162224586-A-C
gnomAD v3:
1-162254796-A-C
gnomAD v4:
1-162254796-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162254796A>C , CM000663.2:g.162254796A>C | GRCh38 |
| NC_000001.10:g.162224586A>C , CM000663.1:g.162224586A>C | GRCh37 |
| NC_000001.9:g.160491210A>C | NCBI36 |
| NG_015979.1:g.190006A>C | |
| NG_015979.2:g.190006A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361897.10:c.178-32548A>C MANE Select | ENSP00000355133.5:n.178-32548A>C | |
| ENST00000361897.9:c.178-32548A>C | ENSP00000355133.5:n.178-32548A>C | |
| ENST00000430120.3:c.178-32548A>C | ENSP00000396713.3:n.178-32548A>C | |
| ENST00000530878.5:c.178-32548A>C | ENSP00000431586.1:n.178-32548A>C | |
| NM_001164757.1:c.178-32548A>C | NP_001158229.1:n.178-32548A>C | |
| NM_014697.2:c.178-32548A>C | NP_055512.1:n.178-32548A>C | |
| NM_014697.3:c.178-32548A>C MANE Select | NP_055512.1:n.178-32548A>C | |
| NM_001164757.2:c.178-32548A>C | NP_001158229.1:n.178-32548A>C |