Linked Data
dbSNP Id:
rs2015599
gnomAD v2:
12-29435480-G-A
gnomAD v3:
12-29282547-G-A
gnomAD v4:
12-29282547-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.29282547G>A , CM000674.2:g.29282547G>A | GRCh38 |
| NC_000012.11:g.29435480G>A , CM000674.1:g.29435480G>A | GRCh37 |
| NC_000012.10:g.29326747G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547411.2:n.437-10753G>A | ||
| ENST00000547759.2:c.190-10753G>A | ENSP00000447467.2:n.190-10753G>A | |
| ENST00000551193.2:c.-91-25111G>A | ENSP00000449187.2:n.-91-25111G>A | |
| ENST00000551451.6:c.190-10753G>A | ENSP00000450117.2:n.190-10753G>A | |
| ENST00000685369.1:n.501-10753G>A | ||
| ENST00000686305.1:c.189+11909G>A | ENSP00000509385.1:n.189+11909G>A | |
| ENST00000686316.1:n.598-10753G>A | ||
| ENST00000686419.1:c.190-10753G>A | ENSP00000509644.1:n.190-10753G>A | |
| ENST00000686974.1:n.620-10753G>A | ||
| ENST00000689380.1:n.539-10753G>A | ||
| ENST00000690002.1:n.373-10753G>A | ||
| ENST00000690162.1:c.-102-10753G>A | ENSP00000510233.1:n.-102-10753G>A | |
| ENST00000691273.1:c.190-10753G>A | ENSP00000508629.1:n.190-10753G>A | |
| ENST00000691861.1:n.284-10753G>A | ||
| ENST00000692223.1:c.190-10753G>A | ENSP00000508868.1:n.190-10753G>A | |
| ENST00000693163.1:c.189+11909G>A | ENSP00000508704.1:n.189+11909G>A | |
| ENST00000536681.8:c.190-10753G>A MANE Select | ENSP00000443291.2:n.190-10753G>A | |
| ENST00000182377.8:c.190-10753G>A | ENSP00000182377.4:n.190-10753G>A | |
| ENST00000536681.7:c.190-10753G>A | ENSP00000443291.2:n.190-10753G>A | |
| ENST00000547116.5:c.-102-10753G>A | ENSP00000449349.1:n.-102-10753G>A | |
| ENST00000547411.1:n.382+11909G>A | ||
| ENST00000551451.5:c.-102-10753G>A | ENSP00000450117.1:n.-102-10753G>A | |
| ENST00000552137.1:c.190-8869G>A | ENSP00000449436.1:n.190-8869G>A | |
| NM_001271783.1:c.190-10753G>A | NP_001258712.1:n.190-10753G>A | |
| NM_001271784.1:c.-102-10753G>A | NP_001258713.1:n.-102-10753G>A | |
| NM_018099.4:c.190-10753G>A | NP_060569.3:n.190-10753G>A | |
| NR_103860.1:n.1059-187C>T | ||
| XM_011520747.1:c.250-10753G>A | XP_011519049.1:n.250-10753G>A | |
| XM_011520748.1:c.250-10753G>A | XP_011519050.1:n.250-10753G>A | |
| XM_011520747.2:c.250-10753G>A | XP_011519049.1:n.250-10753G>A | |
| XM_011520748.3:c.250-10753G>A | XP_011519050.1:n.250-10753G>A | |
| XM_017019624.2:c.190-10753G>A | XP_016875113.1:n.190-10753G>A | |
| XM_017019625.2:c.-92+11909G>A | XP_016875114.1:n.-92+11909G>A | |
| NM_001271783.2:c.190-10753G>A MANE Select | NP_001258712.1:n.190-10753G>A | |
| NM_001271784.2:c.-102-10753G>A | NP_001258713.1:n.-102-10753G>A | |
| NM_018099.5:c.190-10753G>A | NP_060569.3:n.190-10753G>A |