Linked Data
dbSNP Id:
rs1025114695
gnomAD v2:
1-17591718-G-C
gnomAD v3:
1-17265223-G-C
gnomAD v4:
1-17265223-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17265223G>C , CM000663.2:g.17265223G>C | GRCh38 |
| NC_000001.10:g.17591718G>C , CM000663.1:g.17591718G>C | GRCh37 |
| NC_000001.9:g.17464305G>C | NCBI36 |
| NG_052788.1:g.21145G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375460.3:c.347-436G>C MANE Select | ENSP00000364609.3:n.347-436G>C | |
| NM_016233.2:c.347-436G>C MANE Select | NP_057317.2:n.347-436G>C | |
| XM_006710684.2:c.233-436G>C | XP_006710747.1:n.233-436G>C | |
| XM_011541571.1:c.233-436G>C | XP_011539873.1:n.233-436G>C | |
| XM_011541572.1:c.347-436G>C | XP_011539874.1:n.347-436G>C | |
| XM_011541571.2:c.233-436G>C | XP_011539873.1:n.233-436G>C | |
| XM_011541572.2:c.347-436G>C | XP_011539874.1:n.347-436G>C |