Linked Data
ClinVar Variation Id:
1332837
ClinVar RCV Id:
RCV001806411
dbSNP Id:
rs1057517279
gnomAD v2:
1-150779161-C-A
gnomAD v4:
1-150806685-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806685C>A , CM000663.2:g.150806685C>A | GRCh38 |
| NC_000001.10:g.150779161C>A , CM000663.1:g.150779161C>A | GRCh37 |
| NC_000001.9:g.149045785C>A | NCBI36 |
| NG_011848.1:g.6652G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271651.8:c.120+1G>T MANE Select | ENSP00000271651.3:n.120+1G>T | |
| ENST00000443913.2:c.297+1G>T | ENSP00000405083.2:n.297+1G>T | |
| ENST00000480670.2:n.2729G>T | ||
| ENST00000676680.1:c.120+1G>T | ENSP00000503270.1:n.120+1G>T | |
| ENST00000676716.1:c.120+1G>T | ENSP00000504737.1:n.120+1G>T | |
| ENST00000676751.1:c.120+1G>T | ENSP00000502964.1:n.120+1G>T | |
| ENST00000676824.1:c.120+1G>T | ENSP00000504176.1:n.120+1G>T | |
| ENST00000676966.1:c.120+1G>T | ENSP00000503723.1:n.120+1G>T | |
| ENST00000676970.1:c.120+1G>T | ENSP00000503832.1:n.120+1G>T | |
| ENST00000677330.1:n.1486G>T | ||
| ENST00000677887.1:c.162+1G>T | ENSP00000503876.1:n.162+1G>T | |
| ENST00000678275.1:c.120+1G>T | ENSP00000504796.1:n.120+1G>T | |
| ENST00000678337.1:c.156+1G>T | ENSP00000504759.1:n.156+1G>T | |
| ENST00000678725.1:n.1097+1G>T | ||
| ENST00000679090.1:n.245G>T | ||
| ENST00000679148.1:n.1001G>T | ||
| ENST00000679171.1:n.2021G>T | ||
| ENST00000679260.1:c.120+1G>T | ENSP00000504534.1:n.120+1G>T | |
| ENST00000271651.7:c.120+1G>T | ENSP00000271651.3:n.120+1G>T | |
| ENST00000443913.1:c.297+1G>T | ENSP00000405083.1:n.297+1G>T | |
| ENST00000480670.1:n.83+1G>T | ||
| NM_000396.3:c.120+1G>T | NP_000387.1:n.120+1G>T | |
| NM_000396.4:c.120+1G>T MANE Select | NP_000387.1:n.120+1G>T |