Linked Data
dbSNP Id:
rs994856
gnomAD v2:
13-42708451-A-G
gnomAD v3:
13-42134315-A-G
gnomAD v4:
13-42134315-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42134315A>G , CM000675.2:g.42134315A>G | GRCh38 |
| NC_000013.10:g.42708451A>G , CM000675.1:g.42708451A>G | GRCh37 |
| NC_000013.9:g.41606451A>G | NCBI36 |
| NG_029191.2:g.99280A>G | |
| NG_029191.3:g.99280A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337343.9:c.384+4683A>G MANE Select | ENSP00000337572.4:n.384+4683A>G | |
| ENST00000261491.9:c.384+4683A>G | ENSP00000261491.4:n.384+4683A>G | |
| ENST00000337343.8:c.384+4683A>G | ENSP00000337572.4:n.384+4683A>G | |
| ENST00000379274.6:c.384+4683A>G | ENSP00000368576.3:n.384+4683A>G | |
| NM_001204504.2:c.384+4683A>G | NP_001191433.1:n.384+4683A>G | |
| NM_152910.5:c.384+4683A>G | NP_690874.2:n.384+4683A>G | |
| NM_178009.4:c.384+4683A>G | NP_821077.1:n.384+4683A>G | |
| NM_152910.6:c.384+4683A>G | NP_690874.2:n.384+4683A>G | |
| NM_178009.5:c.384+4683A>G MANE Select | NP_821077.1:n.384+4683A>G | |
| NM_001204504.3:c.384+4683A>G | NP_001191433.1:n.384+4683A>G |