Linked Data
ClinVar Variation Id:
860796
ClinVar RCV Id:
RCV001067172
dbSNP Id:
rs546411827
ExAC:
7:143039081 G / A
gnomAD v2:
7-143039081-G-A
gnomAD v3:
7-143341988-G-A
gnomAD v4:
7-143341988-G-A
COSMIC:
COSM33030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341988G>A , CM000669.2:g.143341988G>A | GRCh38 |
| NC_000007.13:g.143039081G>A , CM000669.1:g.143039081G>A | GRCh37 |
| NC_000007.12:g.142749203G>A | NCBI36 |
| NG_009815.1:g.30863G>A | |
| NG_009815.2:g.30863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1642G>A | ENSP00000498052.2:p.Glu548Lys | |
| ENST00000343257.7:c.1642G>A MANE Select | ENSP00000339867.2:p.Glu548Lys | |
| ENST00000432192.6:c.1466G>A | ||
| ENST00000343257.6:c.1642G>A | ENSP00000339867.2:p.Glu548Lys | |
| NM_000083.2:c.1642G>A | NP_000074.2:p.Glu548Lys | |
| NR_046453.1:n.1582G>A | ||
| XM_011515781.1:c.1666G>A | XP_011514083.1:p.Glu556Lys | |
| XM_011515782.1:c.388G>A | XP_011514084.1:p.Glu130Lys | |
| XM_011515782.2:c.388G>A | XP_011514084.1:p.Glu130Lys | |
| XM_017011739.1:c.1216G>A | XP_016867228.1:p.Glu406Lys | |
| XM_017011740.1:c.1192G>A | XP_016867229.1:p.Glu398Lys | |
| NM_000083.3:c.1642G>A MANE Select | NP_000074.3:p.Glu548Lys | |
| NR_046453.2:n.1597G>A |