Linked Data
ClinVar Variation Id:
2897948
ClinVar RCV Id:
RCV003608623
dbSNP Id:
rs1391899850
gnomAD v2:
2-47387952-G-A
gnomAD v3:
2-47160813-G-A
gnomAD v4:
2-47160813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47160813G>A , CM000664.2:g.47160813G>A | GRCh38 |
| NC_000002.11:g.47387952G>A , CM000664.1:g.47387952G>A | GRCh37 |
| NC_000002.10:g.47241456G>A | NCBI36 |
| NG_042065.1:g.21124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272298.12:c.422-9C>T MANE Select | ENSP00000272298.7:n.422-9C>T | |
| ENST00000456319.6:c.314-9C>T | ENSP00000411440.2:n.314-9C>T | |
| ENST00000652974.1:c.*406-9C>T | ENSP00000499369.1:n.*406-9C>T | |
| ENST00000655450.1:c.314-9C>T | ENSP00000499266.1:n.314-9C>T | |
| ENST00000655728.1:c.314-9C>T | ENSP00000499656.1:n.314-9C>T | |
| ENST00000656538.1:c.314-9C>T | ENSP00000499357.1:n.314-9C>T | |
| ENST00000668667.1:c.314-9C>T | ENSP00000499706.1:n.314-9C>T | |
| ENST00000670593.1:n.1327-9C>T | ||
| ENST00000272298.11:c.422-9C>T | ENSP00000272298.7:n.422-9C>T | |
| ENST00000409563.5:c.563-9C>T | ENSP00000387065.1:n.563-9C>T | |
| ENST00000422269.1:c.103-7797C>T | ||
| ENST00000432899.5:c.*117-9C>T | ENSP00000406112.1:n.*117-9C>T | |
| ENST00000456319.5:c.536-9C>T | ENSP00000411440.1:n.536-9C>T | |
| ENST00000460218.5:n.3862-9C>T | ||
| ENST00000482532.5:n.1689-9C>T | ||
| ENST00000628793.2:c.224-9C>T | ENSP00000486952.1:n.224-9C>T | |
| NM_001305624.1:c.566-9C>T | NP_001292553.1:n.566-9C>T | |
| NM_001305625.1:c.314-9C>T | NP_001292554.1:n.314-9C>T | |
| NM_001305626.1:c.314-9C>T | NP_001292555.1:n.314-9C>T | |
| NM_001743.4:c.422-9C>T | NP_001734.1:n.422-9C>T | |
| NM_001743.5:c.422-9C>T | NP_001734.1:n.422-9C>T | |
| NM_001743.6:c.422-9C>T MANE Select | NP_001734.1:n.422-9C>T | |
| NM_001305625.2:c.314-9C>T | NP_001292554.1:n.314-9C>T |