Linked Data
ClinVar Variation Id:
1289702
ClinVar RCV Id:
RCV001714195
dbSNP Id:
rs3211770
gnomAD v2:
13-113793849-G-A
gnomAD v3:
13-113139535-G-A
gnomAD v4:
13-113139535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113139535G>A , CM000675.2:g.113139535G>A | GRCh38 |
| NC_000013.10:g.113793849G>A , CM000675.1:g.113793849G>A | GRCh37 |
| NC_000013.9:g.112841850G>A | NCBI36 |
| NG_009258.1:g.21737G>A , LRG_548:g.21737G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.370+65G>A MANE Select | ENSP00000364709.3:n.370+65G>A | |
| ENST00000375551.7:c.370+65G>A | ENSP00000364701.3:n.370+65G>A | |
| ENST00000375559.7:c.370+65G>A | ENSP00000364709.3:n.370+65G>A | |
| ENST00000409306.5:c.370+65G>A | ENSP00000387092.1:n.370+65G>A | |
| ENST00000410083.6:c.370+65G>A | ENSP00000386320.2:n.370+65G>A | |
| ENST00000477269.5:n.407+65G>A | ||
| NM_000504.3:c.370+65G>A , LRG_548t1:c.370+65G>A | NP_000495.1:n.370+65G>A | |
| NM_001312674.1:c.370+65G>A | NP_001299603.1:n.370+65G>A | |
| NM_001312675.1:c.370+65G>A | NP_001299604.1:n.370+65G>A | |
| NM_000504.4:c.370+65G>A MANE Select | NP_000495.1:n.370+65G>A | |
| NM_001312674.2:c.370+65G>A | NP_001299603.1:n.370+65G>A | |
| NM_001312675.2:c.370+65G>A | NP_001299604.1:n.370+65G>A |