Linked Data
dbSNP Id:
rs1315679031
gnomAD v3:
11-118659631-G-A
gnomAD v4:
11-118659631-G-A
MyVariant Identifiers:
chr11:g.118659631G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118659631G>A , CM000673.2:g.118659631G>A | GRCh38 |
| NC_000011.9:g.118530340G>A , CM000673.1:g.118530340G>A | GRCh37 |
| NC_000011.8:g.118035550G>A | NCBI36 |
| NG_023321.1:g.25042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264029.9:c.1320+116C>T MANE Select | ENSP00000264029.5:n.1320+116C>T | |
| ENST00000264029.8:c.1320+116C>T | ENSP00000264029.5:n.1320+116C>T | |
| ENST00000397925.2:c.1227+116C>T | ENSP00000381020.2:n.1227+116C>T | |
| ENST00000613915.4:c.*1097+116C>T | ENSP00000477923.1:n.*1097+116C>T | |
| NM_001301065.1:c.1227+116C>T | NP_001287994.1:n.1227+116C>T | |
| NM_007180.2:c.1320+116C>T | NP_009111.2:n.1320+116C>T | |
| XM_011542564.1:c.897+116C>T | XP_011540866.1:n.897+116C>T | |
| NM_001301065.2:c.1227+116C>T | NP_001287994.1:n.1227+116C>T | |
| NM_007180.3:c.1320+116C>T MANE Select | NP_009111.2:n.1320+116C>T |