Linked Data
dbSNP Id:
rs2275703
gnomAD v2:
1-160165095-A-C
gnomAD v3:
1-160195305-A-C
gnomAD v4:
1-160195305-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160195305A>C , CM000663.2:g.160195305A>C | GRCh38 |
| NC_000001.10:g.160165095A>C , CM000663.1:g.160165095A>C | GRCh37 |
| NC_000001.9:g.158431719A>C | NCBI36 |
| NG_042040.1:g.9811A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368078.8:c.578-156A>C MANE Select | ENSP00000357057.3:n.578-156A>C | |
| ENST00000368078.7:c.578-156A>C | ENSP00000357057.3:n.578-156A>C | |
| ENST00000481081.1:n.463-156A>C | ||
| NM_001231.4:c.578-156A>C | NP_001222.3:n.578-156A>C | |
| NM_001231.5:c.578-156A>C MANE Select | NP_001222.3:n.578-156A>C |