Linked Data
dbSNP Id:
rs1555144443
gnomAD v2:
11-118530432-C-T
MyVariant Identifiers:
chr11:g.118530432C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118659723C>T , CM000673.2:g.118659723C>T | GRCh38 |
| NC_000011.9:g.118530432C>T , CM000673.1:g.118530432C>T | GRCh37 |
| NC_000011.8:g.118035642C>T | NCBI36 |
| NG_023321.1:g.24950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264029.9:c.1320+24G>A MANE Select | ENSP00000264029.5:n.1320+24G>A | |
| ENST00000264029.8:c.1320+24G>A | ENSP00000264029.5:n.1320+24G>A | |
| ENST00000397925.2:c.1227+24G>A | ENSP00000381020.2:n.1227+24G>A | |
| ENST00000613915.4:c.*1097+24G>A | ENSP00000477923.1:n.*1097+24G>A | |
| NM_001301065.1:c.1227+24G>A | NP_001287994.1:n.1227+24G>A | |
| NM_007180.2:c.1320+24G>A | NP_009111.2:n.1320+24G>A | |
| XM_011542564.1:c.897+24G>A | XP_011540866.1:n.897+24G>A | |
| NM_001301065.2:c.1227+24G>A | NP_001287994.1:n.1227+24G>A | |
| NM_007180.3:c.1320+24G>A MANE Select | NP_009111.2:n.1320+24G>A |