Linked Data
dbSNP Id:
rs1562978988
gnomAD v2:
7-99240098-G-C
gnomAD v3:
7-99642475-G-C
gnomAD v4:
7-99642475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99642475G>C , CM000669.2:g.99642475G>C | GRCh38 |
| NC_000007.13:g.99240098G>C , CM000669.1:g.99240098G>C | GRCh37 |
| NC_000007.12:g.99078034G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011515909.1:c.805+18295G>C | XP_011514211.1:n.805+18295G>C | |
| XM_011515910.1:c.806-4996G>C | XP_011514212.1:n.806-4996G>C | |
| XR_927402.1:n.1466+18295G>C | ||
| NM_001350984.1:c.805+18295G>C | NP_001337913.1:n.805+18295G>C | |
| NM_001350985.1:c.805+18295G>C | NP_001337914.1:n.805+18295G>C | |
| XM_011515909.2:c.805+18295G>C | XP_011514211.1:n.805+18295G>C | |
| XM_011515910.2:c.806-4996G>C | XP_011514212.1:n.806-4996G>C | |
| XR_927402.2:n.1465+18295G>C | ||
| NM_001350984.2:c.805+18295G>C | NP_001337913.1:n.805+18295G>C | |
| NM_001350985.2:c.805+18295G>C | NP_001337914.1:n.805+18295G>C |