Linked Data
gnomAD v3:
7-74789148-G-A
gnomAD v4:
7-74789148-G-A
MyVariant Identifiers:
chr7:g.74203492G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789148G>A , CM000669.2:g.74789148G>A | GRCh38 |
| NC_000007.13:g.74203492G>A , CM000669.1:g.74203492G>A | GRCh37 |
| NC_000007.12:g.73841428G>A | NCBI36 |
| NG_009078.2:g.20185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.1161G>A MANE Select | ENSP00000289473.4:p.Ala387= | |
| ENST00000289473.10:c.1161G>A | ENSP00000289473.4:p.Ala387= | |
| ENST00000289473.8:c.1161G>A | ENSP00000289473.4:p.Ala387= | |
| ENST00000398421.6:n.2188G>A | ||
| ENST00000455062.2:n.1270G>A | ||
| NM_000265.5:c.1161G>A | NP_000256.4:p.Ala387= | |
| XM_005250543.3:c.*82G>A | XP_005250600.2:n.*82G>A | |
| XM_011516498.1:c.*35G>A | XP_011514800.1:n.*35G>A | |
| XM_011516501.1:c.768G>A | XP_011514803.1:p.Ala256= | |
| NM_000265.6:c.1161G>A | NP_000256.4:p.Ala387= | |
| NM_000265.7:c.1161G>A MANE Select | NP_000256.4:p.Ala387= |