Linked Data
ClinVar Variation Id:
507565
dbSNP Id:
rs3729963
ExAC:
2:47389409 C / A
gnomAD v2:
2-47389409-C-A
gnomAD v3:
2-47162270-C-A
gnomAD v4:
2-47162270-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47162270C>A , CM000664.2:g.47162270C>A | GRCh38 |
| NC_000002.11:g.47389409C>A , CM000664.1:g.47389409C>A | GRCh37 |
| NC_000002.10:g.47242913C>A | NCBI36 |
| NG_042065.1:g.19667G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272298.12:c.285+16G>T MANE Select | ENSP00000272298.7:n.285+16G>T | |
| ENST00000456319.6:c.177+16G>T | ENSP00000411440.2:n.177+16G>T | |
| ENST00000652974.1:c.*269+16G>T | ENSP00000499369.1:n.*269+16G>T | |
| ENST00000655450.1:c.177+16G>T | ENSP00000499266.1:n.177+16G>T | |
| ENST00000655728.1:c.177+16G>T | ENSP00000499656.1:n.177+16G>T | |
| ENST00000656538.1:c.177+16G>T | ENSP00000499357.1:n.177+16G>T | |
| ENST00000668667.1:c.177+16G>T | ENSP00000499706.1:n.177+16G>T | |
| ENST00000670593.1:n.1190+16G>T | ||
| ENST00000272298.11:c.285+16G>T | ENSP00000272298.7:n.285+16G>T | |
| ENST00000409563.5:c.426+16G>T | ENSP00000387065.1:n.426+16G>T | |
| ENST00000422269.1:c.102+8464G>T | ||
| ENST00000432899.5:c.178+249G>T | ENSP00000406112.1:n.178+249G>T | |
| ENST00000456319.5:c.399+16G>T | ENSP00000411440.1:n.399+16G>T | |
| ENST00000460218.5:n.3725+16G>T | ||
| ENST00000482532.5:n.1552+16G>T | ||
| ENST00000484408.5:n.546+16G>T | ||
| ENST00000628793.2:c.165+262G>T | ENSP00000486952.1:n.165+262G>T | |
| NM_001305624.1:c.429+16G>T | NP_001292553.1:n.429+16G>T | |
| NM_001305625.1:c.177+16G>T | NP_001292554.1:n.177+16G>T | |
| NM_001305626.1:c.177+16G>T | NP_001292555.1:n.177+16G>T | |
| NM_001743.4:c.285+16G>T | NP_001734.1:n.285+16G>T | |
| NM_001743.5:c.285+16G>T | NP_001734.1:n.285+16G>T | |
| NM_001743.6:c.285+16G>T MANE Select | NP_001734.1:n.285+16G>T | |
| NM_001305625.2:c.177+16G>T | NP_001292554.1:n.177+16G>T |