Linked Data
dbSNP Id:
rs1467568
gnomAD v2:
10-69675158-A-G
gnomAD v3:
10-67915401-A-G
gnomAD v4:
10-67915401-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67915401A>G , CM000672.2:g.67915401A>G | GRCh38 |
| NC_000010.10:g.69675158A>G , CM000672.1:g.69675158A>G | GRCh37 |
| NC_000010.9:g.69345164A>G | NCBI36 |
| NG_050664.1:g.35740A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000212015.11:c.1916-864A>G MANE Select | ENSP00000212015.6:n.1916-864A>G | |
| ENST00000212015.10:c.1916-864A>G | ENSP00000212015.6:n.1916-864A>G | |
| ENST00000403579.1:c.1007-864A>G | ENSP00000384063.1:n.1007-864A>G | |
| ENST00000406900.5:c.1007-864A>G | ENSP00000384508.1:n.1007-864A>G | |
| ENST00000432464.5:c.1031-864A>G | ENSP00000409208.1:n.1031-864A>G | |
| NM_001142498.1:c.1031-864A>G | NP_001135970.1:n.1031-864A>G | |
| NM_001314049.1:c.1007-864A>G | NP_001300978.1:n.1007-864A>G | |
| NM_012238.4:c.1916-864A>G | NP_036370.2:n.1916-864A>G | |
| XM_006717737.2:c.1763-864A>G | XP_006717800.1:n.1763-864A>G | |
| XM_011539561.1:c.1340-864A>G | XP_011537863.1:n.1340-864A>G | |
| NM_012238.5:c.1916-864A>G MANE Select | NP_036370.2:n.1916-864A>G | |
| NM_001142498.2:c.1031-864A>G | NP_001135970.1:n.1031-864A>G |