Linked Data
ClinVar Variation Id:
1916943
ClinVar RCV Id:
RCV002590813
dbSNP Id:
rs1325884656
gnomAD v2:
2-47389011-T-A
gnomAD v3:
2-47161872-T-A
gnomAD v4:
2-47161872-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47161872T>A , CM000664.2:g.47161872T>A | GRCh38 |
| NC_000002.11:g.47389011T>A , CM000664.1:g.47389011T>A | GRCh37 |
| NC_000002.10:g.47242515T>A | NCBI36 |
| NG_042065.1:g.20065A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272298.12:c.286-14A>T MANE Select | ENSP00000272298.7:n.286-14A>T | |
| ENST00000456319.6:c.178-14A>T | ENSP00000411440.2:n.178-14A>T | |
| ENST00000652974.1:c.*270-14A>T | ENSP00000499369.1:n.*270-14A>T | |
| ENST00000655450.1:c.178-14A>T | ENSP00000499266.1:n.178-14A>T | |
| ENST00000655728.1:c.178-14A>T | ENSP00000499656.1:n.178-14A>T | |
| ENST00000656538.1:c.178-14A>T | ENSP00000499357.1:n.178-14A>T | |
| ENST00000668667.1:c.178-14A>T | ENSP00000499706.1:n.178-14A>T | |
| ENST00000670593.1:n.1191-14A>T | ||
| ENST00000272298.11:c.286-14A>T | ENSP00000272298.7:n.286-14A>T | |
| ENST00000409563.5:c.427-14A>T | ENSP00000387065.1:n.427-14A>T | |
| ENST00000422269.1:c.103-8856A>T | ||
| ENST00000432899.5:c.179-14A>T | ENSP00000406112.1:n.179-14A>T | |
| ENST00000456319.5:c.400-14A>T | ENSP00000411440.1:n.400-14A>T | |
| ENST00000460218.5:n.3726-14A>T | ||
| ENST00000482532.5:n.1553-14A>T | ||
| ENST00000484408.5:n.547-14A>T | ||
| ENST00000628793.2:c.166-92A>T | ENSP00000486952.1:n.166-92A>T | |
| NM_001305624.1:c.430-14A>T | NP_001292553.1:n.430-14A>T | |
| NM_001305625.1:c.178-14A>T | NP_001292554.1:n.178-14A>T | |
| NM_001305626.1:c.178-14A>T | NP_001292555.1:n.178-14A>T | |
| NM_001743.4:c.286-14A>T | NP_001734.1:n.286-14A>T | |
| NM_001743.5:c.286-14A>T | NP_001734.1:n.286-14A>T | |
| NM_001743.6:c.286-14A>T MANE Select | NP_001734.1:n.286-14A>T | |
| NM_001305625.2:c.178-14A>T | NP_001292554.1:n.178-14A>T |