Linked Data
ClinVar Variation Id:
1430640
ClinVar RCV Id:
RCV001971878
dbSNP Id:
rs1413431429
gnomAD v3:
X-15325162-T-C
gnomAD v4:
X-15325162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15325162T>C , CM000685.2:g.15325162T>C | GRCh38 |
| NC_000023.10:g.15343284T>C , CM000685.1:g.15343284T>C | GRCh37 |
| NC_000023.9:g.15253205T>C | NCBI36 |
| NG_009786.1:g.15377A>G , LRG_160:g.15377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.849-10A>G MANE Select | ENSP00000369820.3:n.849-10A>G | |
| ENST00000637296.1:c.-97-10A>G | ENSP00000490545.1:n.-97-10A>G | |
| ENST00000637626.1:c.*330-10A>G | ENSP00000489928.1:n.*330-10A>G | |
| ENST00000638131.1:c.*110-10A>G | ENSP00000490483.1:n.*110-10A>G | |
| ENST00000333590.5:c.849-10A>G | ENSP00000369820.3:n.849-10A>G | |
| ENST00000463173.1:n.111A>G | ||
| ENST00000482148.6:c.342-10A>G | ENSP00000489528.1:n.342-10A>G | |
| ENST00000542278.6:c.849-10A>G | ENSP00000442653.2:n.849-10A>G | |
| ENST00000634286.1:c.462-10A>G | ENSP00000489491.1:n.462-10A>G | |
| ENST00000634582.1:c.147-10A>G | ENSP00000489540.1:n.147-10A>G | |
| ENST00000634640.1:c.-97-10A>G | ENSP00000489083.1:n.-97-10A>G | |
| ENST00000635045.1:n.934-10A>G | ||
| ENST00000635480.1:n.471-10A>G | ||
| ENST00000635598.1:c.*118-10A>G | ENSP00000489207.1:n.*118-10A>G | |
| ENST00000635631.1:n.190-10A>G | ||
| NM_002641.3:c.849-10A>G , LRG_160t1:c.849-10A>G | NP_002632.1:n.849-10A>G | |
| NM_020473.3:c.147-10A>G | NP_065206.3:n.147-10A>G | |
| NR_033835.1:n.591-10A>G | ||
| NR_033836.1:n.307-10A>G | ||
| XM_011545539.1:c.156-10A>G | XP_011543841.1:n.156-10A>G | |
| XM_011545539.2:c.156-10A>G | XP_011543841.1:n.156-10A>G | |
| NM_002641.4:c.849-10A>G MANE Select | NP_002632.1:n.849-10A>G |