Linked Data
dbSNP Id:
rs1314123956
gnomAD v2:
1-162085400-C-A
gnomAD v3:
1-162115610-C-A
gnomAD v4:
1-162115610-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162115610C>A , CM000663.2:g.162115610C>A | GRCh38 |
| NC_000001.10:g.162085400C>A , CM000663.1:g.162085400C>A | GRCh37 |
| NC_000001.9:g.160352024C>A | NCBI36 |
| NG_015979.1:g.50820C>A | |
| NG_015979.2:g.50820C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.106-38795C>A MANE Select | ENSP00000355133.5:n.106-38795C>A | |
| ENST00000361897.9:c.106-38795C>A | ENSP00000355133.5:n.106-38795C>A | |
| ENST00000430120.3:c.106-38795C>A | ENSP00000396713.3:n.106-38795C>A | |
| ENST00000530878.5:c.106-38795C>A | ENSP00000431586.1:n.106-38795C>A | |
| NM_001164757.1:c.106-38795C>A | NP_001158229.1:n.106-38795C>A | |
| NM_014697.2:c.106-38795C>A | NP_055512.1:n.106-38795C>A | |
| XR_922217.1:n.884-1708G>T | ||
| XR_922219.1:n.713-1708G>T | ||
| XR_922221.1:n.713-8862G>T | ||
| XR_002958375.1:n.3842-1708G>T | ||
| XR_002958378.1:n.3671-1708G>T | ||
| NM_014697.3:c.106-38795C>A MANE Select | NP_055512.1:n.106-38795C>A | |
| NM_001164757.2:c.106-38795C>A | NP_001158229.1:n.106-38795C>A |