Linked Data
dbSNP Id:
rs1171207936
gnomAD v3:
7-74789214-A-G
gnomAD v4:
7-74789214-A-G
MyVariant Identifiers:
chr7:g.74789214A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789214A>G , CM000669.2:g.74789214A>G | GRCh38 |
| NC_000007.13:g.74203558A>G , CM000669.1:g.74203558A>G | GRCh37 |
| NC_000007.12:g.73841494A>G | NCBI36 |
| NG_009078.2:g.20251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.*54A>G MANE Select | ENSP00000289473.4:n.*54A>G | |
| ENST00000289473.10:c.*54A>G | ENSP00000289473.4:n.*54A>G | |
| ENST00000289473.8:c.*54A>G | ENSP00000289473.4:n.*54A>G | |
| ENST00000398421.6:n.2254A>G | ||
| ENST00000455062.2:n.1336A>G | ||
| NM_000265.5:c.*54A>G | NP_000256.4:n.*54A>G | |
| XM_005250543.3:c.*148A>G | XP_005250600.2:n.*148A>G | |
| XM_011516498.1:c.*101A>G | XP_011514800.1:n.*101A>G | |
| XM_011516501.1:c.*54A>G | XP_011514803.1:n.*54A>G | |
| NM_000265.6:c.*54A>G | NP_000256.4:n.*54A>G | |
| NM_000265.7:c.*54A>G MANE Select | NP_000256.4:n.*54A>G |