Linked Data
ClinVar Variation Id:
1945112
ClinVar RCV Id:
RCV002640088
dbSNP Id:
rs2036310075
gnomAD v4:
14-76022414-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76022414A>G , CM000676.2:g.76022414A>G | GRCh38 |
| NC_000014.8:g.76488757A>G , CM000676.1:g.76488757A>G | GRCh37 |
| NC_000014.7:g.75558510A>G | NCBI36 |
| NG_031957.1:g.41662A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.215+20A>G MANE Select | ENSP00000324177.6:n.215+20A>G | |
| ENST00000679083.1:c.152+20A>G | ENSP00000504736.1:n.152+20A>G | |
| ENST00000238628.10:c.215+20A>G | ENSP00000238628.6:n.215+20A>G | |
| ENST00000314067.10:c.215+20A>G | ENSP00000324177.6:n.215+20A>G | |
| ENST00000542766.5:c.215+20A>G | ENSP00000440064.1:n.215+20A>G | |
| ENST00000553438.1:n.70+20A>G | ||
| ENST00000554026.5:n.222+20A>G | ||
| ENST00000555305.5:n.222+20A>G | ||
| ENST00000555370.5:c.*273+20A>G | ENSP00000452051.1:n.*273+20A>G | |
| ENST00000555677.5:n.270A>G | ||
| ENST00000556742.1:c.215+20A>G | ENSP00000451096.1:n.215+20A>G | |
| NM_001102564.1:c.215+20A>G | NP_001096034.1:n.215+20A>G | |
| NM_001255995.1:c.215+20A>G | NP_001242924.1:n.215+20A>G | |
| NM_052873.2:c.215+20A>G | NP_443105.2:n.215+20A>G | |
| NR_045664.1:n.249+20A>G | ||
| NR_045665.1:n.249+20A>G | ||
| NM_001102564.2:c.215+20A>G | NP_001096034.1:n.215+20A>G | |
| NM_001255995.2:c.215+20A>G | NP_001242924.1:n.215+20A>G | |
| NM_052873.3:c.215+20A>G | NP_443105.2:n.215+20A>G | |
| NM_001102564.3:c.215+20A>G MANE Select | NP_001096034.1:n.215+20A>G | |
| NM_001255995.3:c.215+20A>G | NP_001242924.1:n.215+20A>G | |
| NR_045664.2:n.239+20A>G | ||
| NR_045665.2:n.239+20A>G |