Linked Data
ClinVar Variation Id:
851926
ClinVar RCV Id:
RCV001056436
dbSNP Id:
rs1193157349
gnomAD v2:
7-143016920-A-G
gnomAD v4:
7-143319827-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143319827A>G , CM000669.2:g.143319827A>G | GRCh38 |
| NC_000007.13:g.143016920A>G , CM000669.1:g.143016920A>G | GRCh37 |
| NC_000007.12:g.142727042A>G | NCBI36 |
| NG_009815.1:g.8702A>G | |
| NG_009815.2:g.8702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.253A>G | ENSP00000498052.2:p.Ser85Gly | |
| ENST00000343257.7:c.253A>G MANE Select | ENSP00000339867.2:p.Ser85Gly | |
| ENST00000432192.6:c.21A>G | ||
| ENST00000650516.1:c.253A>G | ENSP00000498052.1:p.Ser85Gly | |
| ENST00000343257.6:c.253A>G | ENSP00000339867.2:p.Ser85Gly | |
| NM_000083.2:c.253A>G | NP_000074.2:p.Ser85Gly | |
| NR_046453.1:n.340A>G | ||
| XM_011515781.1:c.253A>G | XP_011514083.1:p.Ser85Gly | |
| XM_017011739.1:c.-41A>G | XP_016867228.1:n.-41A>G | |
| XM_017011740.1:c.-41A>G | XP_016867229.1:n.-41A>G | |
| NM_000083.3:c.253A>G MANE Select | NP_000074.3:p.Ser85Gly | |
| NR_046453.2:n.355A>G |