Linked Data
ClinVar Variation Id:
1019140
ClinVar RCV Id:
RCV001318534
dbSNP Id:
rs1336878695
gnomAD v2:
7-143036392-G-A
gnomAD v3:
7-143339299-G-A
gnomAD v4:
7-143339299-G-A
COSMIC:
COSM5872102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339299G>A , CM000669.2:g.143339299G>A | GRCh38 |
| NC_000007.13:g.143036392G>A , CM000669.1:g.143036392G>A | GRCh37 |
| NC_000007.12:g.142746514G>A | NCBI36 |
| NG_009815.1:g.28174G>A | |
| NG_009815.2:g.28174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1448G>A | ENSP00000498052.2:p.Gly483Asp | |
| ENST00000343257.7:c.1448G>A MANE Select | ENSP00000339867.2:p.Gly483Asp | |
| ENST00000432192.6:c.1272G>A | ||
| ENST00000343257.6:c.1448G>A | ENSP00000339867.2:p.Gly483Asp | |
| NM_000083.2:c.1448G>A | NP_000074.2:p.Gly483Asp | |
| NR_046453.1:n.1388G>A | ||
| XM_011515781.1:c.1472G>A | XP_011514083.1:p.Gly491Asp | |
| XM_011515782.1:c.194G>A | XP_011514084.1:p.Gly65Asp | |
| XM_011515782.2:c.194G>A | XP_011514084.1:p.Gly65Asp | |
| XM_017011739.1:c.1022G>A | XP_016867228.1:p.Gly341Asp | |
| XM_017011740.1:c.998G>A | XP_016867229.1:p.Gly333Asp | |
| NM_000083.3:c.1448G>A MANE Select | NP_000074.3:p.Gly483Asp | |
| NR_046453.2:n.1403G>A |