Linked Data
dbSNP Id:
rs10465543
gnomAD v2:
1-23134218-G-A
gnomAD v3:
1-22807725-G-A
gnomAD v4:
1-22807725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22807725G>A , CM000663.2:g.22807725G>A | GRCh38 |
| NC_000001.10:g.23134218G>A , CM000663.1:g.23134218G>A | GRCh37 |
| NC_000001.9:g.23006805G>A | NCBI36 |
| NG_011804.2:g.101888G>A , LRG_780:g.101888G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374630.8:c.811+22649G>A MANE Select | ENSP00000363761.3:n.811+22649G>A | |
| ENST00000374627.1:c.793+22649G>A | ENSP00000363758.1:n.793+22649G>A | |
| ENST00000374630.7:c.811+22649G>A | ENSP00000363761.3:n.811+22649G>A | |
| ENST00000374632.7:c.811+22649G>A | ENSP00000363763.3:n.811+22649G>A | |
| ENST00000400191.7:c.811+22649G>A | ENSP00000383053.3:n.811+22649G>A | |
| ENST00000465676.1:n.52+7434G>A | ||
| ENST00000544305.5:c.811+22649G>A | ENSP00000444174.1:n.811+22649G>A | |
| NM_001309192.1:c.811+22649G>A | NP_001296121.1:n.811+22649G>A | |
| NM_001309193.1:c.811+22649G>A | NP_001296122.1:n.811+22649G>A | |
| NM_004442.6:c.811+22649G>A | NP_004433.2:n.811+22649G>A | |
| NM_004442.7:c.811+22649G>A , LRG_780t1:c.811+22649G>A | NP_004433.2:n.811+22649G>A | |
| NM_017449.3:c.811+22649G>A | NP_059145.2:n.811+22649G>A | |
| NM_017449.4:c.811+22649G>A , LRG_780t2:c.811+22649G>A | NP_059145.2:n.811+22649G>A | |
| XM_006710441.2:c.790+22649G>A | XP_006710504.1:n.790+22649G>A | |
| XM_006710442.2:c.811+22649G>A | XP_006710505.1:n.811+22649G>A | |
| XM_006710441.4:c.790+22649G>A | XP_006710504.1:n.790+22649G>A | |
| XM_006710442.4:c.811+22649G>A | XP_006710505.1:n.811+22649G>A | |
| NM_001309192.2:c.811+22649G>A | NP_001296121.1:n.811+22649G>A | |
| NM_001309193.2:c.811+22649G>A | NP_001296122.1:n.811+22649G>A | |
| NM_017449.5:c.811+22649G>A MANE Select | NP_059145.2:n.811+22649G>A |