Linked Data
dbSNP Id:
rs1260426420
gnomAD v3:
7-74789271-C-A
gnomAD v4:
7-74789271-C-A
MyVariant Identifiers:
chr7:g.74789271C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789271C>A , CM000669.2:g.74789271C>A | GRCh38 |
| NC_000007.13:g.74203615C>A , CM000669.1:g.74203615C>A | GRCh37 |
| NC_000007.12:g.73841551C>A | NCBI36 |
| NG_009078.2:g.20308C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.*111C>A MANE Select | ENSP00000289473.4:n.*111C>A | |
| ENST00000289473.10:c.*111C>A | ENSP00000289473.4:n.*111C>A | |
| ENST00000289473.8:c.*111C>A | ENSP00000289473.4:n.*111C>A | |
| ENST00000398421.6:n.2311C>A | ||
| ENST00000455062.2:n.1393C>A | ||
| NM_000265.5:c.*111C>A | NP_000256.4:n.*111C>A | |
| XM_005250543.3:c.*205C>A | XP_005250600.2:n.*205C>A | |
| XM_011516498.1:c.*158C>A | XP_011514800.1:n.*158C>A | |
| XM_011516501.1:c.*111C>A | XP_011514803.1:n.*111C>A | |
| NM_000265.6:c.*111C>A | NP_000256.4:n.*111C>A | |
| NM_000265.7:c.*111C>A MANE Select | NP_000256.4:n.*111C>A |