Linked Data
ClinVar Variation Id:
2139242
ClinVar RCV Id:
RCV003050914
dbSNP Id:
rs1391229425
gnomAD v2:
7-100231101-G-A
gnomAD v4:
7-100633478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633478G>A , CM000669.2:g.100633478G>A | GRCh38 |
| NC_000007.13:g.100231101G>A , CM000669.1:g.100231101G>A | GRCh37 |
| NC_000007.12:g.100069037G>A | NCBI36 |
| NG_007989.1:g.13073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.552C>T MANE Select | ENSP00000223051.3:p.Ser184= | |
| ENST00000223051.7:c.552C>T | ENSP00000223051.3:p.Ser184= | |
| ENST00000431692.5:c.552C>T | ENSP00000413905.1:p.Ser184= | |
| ENST00000462107.1:c.552C>T | ENSP00000420525.1:p.Ser184= | |
| ENST00000465294.5:n.557C>T | ||
| ENST00000475011.1:n.81C>T | ||
| ENST00000476304.5:n.173C>T | ||
| NM_001206855.1:c.39C>T | NP_001193784.1:p.Ser13= | |
| NM_003227.3:c.552C>T | NP_003218.2:p.Ser184= | |
| XM_005250553.3:c.552C>T | XP_005250610.1:p.Ser184= | |
| XM_005250554.3:c.552C>T | XP_005250611.1:p.Ser184= | |
| NM_001206855.2:c.39C>T | NP_001193784.1:p.Ser13= | |
| XM_005250553.4:c.552C>T | XP_005250610.1:p.Ser184= | |
| XM_017012573.1:c.552C>T | XP_016868062.1:p.Ser184= | |
| NM_003227.4:c.552C>T MANE Select | NP_003218.2:p.Ser184= | |
| NM_001206855.3:c.39C>T | NP_001193784.1:p.Ser13= |