Linked Data
dbSNP Id:
rs782202466
ExAC:
11:118900105 C / T
gnomAD v2:
11-118900105-C-T
gnomAD v3:
11-119029395-C-T
gnomAD v4:
11-119029395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029395C>T , CM000673.2:g.119029395C>T | GRCh38 |
| NC_000011.9:g.118900105C>T , CM000673.1:g.118900105C>T | GRCh37 |
| NC_000011.8:g.118405315C>T | NCBI36 |
| NG_013331.1:g.6512G>A , LRG_187:g.6512G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.204G>A | ||
| ENST00000697846.1:n.204G>A | ||
| ENST00000697847.1:n.204G>A | ||
| ENST00000697848.1:n.204G>A | ||
| ENST00000697849.1:n.448G>A | ||
| ENST00000697850.1:n.204G>A | ||
| ENST00000697851.1:n.448G>A | ||
| ENST00000638186.1:n.278G>A | ||
| ENST00000638360.1:n.212G>A | ||
| ENST00000638925.1:n.211G>A | ||
| ENST00000650539.1:n.380G>A | ||
| ENST00000330775.9:c.-26G>A | ENSP00000476242.2:n.-26G>A | |
| ENST00000357590.9:c.-26G>A | ENSP00000476176.2:n.-26G>A | |
| ENST00000525039.5:n.398G>A | ||
| ENST00000525102.5:n.732G>A | ||
| ENST00000525787.1:n.270G>A | ||
| ENST00000526626.6:n.170G>A | ||
| ENST00000527992.5:n.202G>A | ||
| ENST00000530407.5:n.194G>A | ||
| ENST00000532085.1:n.1469G>A | ||
| ENST00000532888.6:n.170G>A | ||
| ENST00000534384.1:n.195G>A | ||
| ENST00000538950.5:c.-175G>A | ENSP00000475991.2:n.-175G>A | |
| ENST00000545985.5:c.-26G>A | ENSP00000475241.2:n.-26G>A | |
| NM_001164277.1:c.-26G>A , LRG_187t1:c.-26G>A | NP_001157749.1:n.-26G>A | |
| NM_001164278.1:c.-26G>A | NP_001157750.1:n.-26G>A | |
| NM_001164279.1:c.-175G>A | NP_001157751.1:n.-175G>A | |
| NM_001164280.1:c.-26G>A | NP_001157752.1:n.-26G>A | |
| NM_001467.5:c.-26G>A | NP_001458.1:n.-26G>A | |
| NM_001164278.2:c.-26G>A | NP_001157750.1:n.-26G>A | |
| NM_001164279.2:c.-175G>A | NP_001157751.1:n.-175G>A | |
| NM_001164280.2:c.-26G>A | NP_001157752.1:n.-26G>A | |
| NM_001467.6:c.-26G>A | NP_001458.1:n.-26G>A | |
| NM_001164277.2:c.-26G>A MANE Select | NP_001157749.1:n.-26G>A |