Linked Data
ClinVar Variation Id:
1999418
ClinVar RCV Id:
RCV002819587
dbSNP Id:
rs1212563556
gnomAD v2:
7-143048869-C-A
gnomAD v3:
7-143351776-C-A
gnomAD v4:
7-143351776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351776C>A , CM000669.2:g.143351776C>A | GRCh38 |
| NC_000007.13:g.143048869C>A , CM000669.1:g.143048869C>A | GRCh37 |
| NC_000007.12:g.142758991C>A | NCBI36 |
| NG_009815.1:g.40651C>A | |
| NG_009815.2:g.40651C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2778C>A | ENSP00000498052.2:p.Ser926= | |
| ENST00000343257.7:c.2778C>A MANE Select | ENSP00000339867.2:p.Ser926= | |
| ENST00000343257.6:c.2778C>A | ENSP00000339867.2:p.Ser926= | |
| NM_000083.2:c.2778C>A | NP_000074.2:p.Ser926= | |
| NR_046453.1:n.2718C>A | ||
| XM_011515781.1:c.2802C>A | XP_011514083.1:p.Ser934= | |
| XM_011515782.1:c.1524C>A | XP_011514084.1:p.Ser508= | |
| XM_011515782.2:c.1524C>A | XP_011514084.1:p.Ser508= | |
| XM_017011739.1:c.2352C>A | XP_016867228.1:p.Ser784= | |
| XM_017011740.1:c.2328C>A | XP_016867229.1:p.Ser776= | |
| NM_000083.3:c.2778C>A MANE Select | NP_000074.3:p.Ser926= | |
| NR_046453.2:n.2733C>A |