Linked Data
dbSNP Id:
rs1316085545
gnomAD v3:
7-74789356-C-T
gnomAD v4:
7-74789356-C-T
MyVariant Identifiers:
chr7:g.74789356C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789356C>T , CM000669.2:g.74789356C>T | GRCh38 |
| NC_000007.13:g.74203700C>T , CM000669.1:g.74203700C>T | GRCh37 |
| NC_000007.12:g.73841636C>T | NCBI36 |
| NG_009078.2:g.20393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.10:c.*196C>T | ENSP00000289473.4:n.*196C>T | |
| NM_000265.5:c.*196C>T | NP_000256.4:n.*196C>T | |
| XM_005250543.3:c.*290C>T | XP_005250600.2:n.*290C>T | |
| XM_011516498.1:c.*243C>T | XP_011514800.1:n.*243C>T | |
| XM_011516501.1:c.*196C>T | XP_011514803.1:n.*196C>T | |
| NM_000265.6:c.*196C>T | NP_000256.4:n.*196C>T |