Linked Data
dbSNP Id:
rs1398100239
gnomAD v2:
6-132168141-A-C
gnomAD v3:
6-131847001-A-C
gnomAD v4:
6-131847001-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131847001A>C , CM000668.2:g.131847001A>C | GRCh38 |
| NC_000006.11:g.132168141A>C , CM000668.1:g.132168141A>C | GRCh37 |
| NC_000006.10:g.132209834A>C | NCBI36 |
| NG_008206.1:g.43986A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684147.1:n.519-775A>C | ||
| ENST00000647893.1:c.241-775A>C MANE Select | ENSP00000498074.1:n.241-775A>C | |
| ENST00000650507.1:c.248-775A>C | ENSP00000497375.1:n.248-775A>C | |
| ENST00000360971.6:c.241-775A>C | ENSP00000354238.2:n.241-775A>C | |
| ENST00000486853.1:n.261-775A>C | ||
| ENST00000513998.5:c.241-775A>C | ENSP00000422424.1:n.241-775A>C | |
| NM_006208.2:c.241-775A>C | NP_006199.2:n.241-775A>C | |
| NM_006208.3:c.241-775A>C MANE Select | NP_006199.2:n.241-775A>C |