Linked Data
dbSNP Id:
rs1345421701
gnomAD v2:
11-108090804-C-T
gnomAD v3:
11-108220077-C-T
gnomAD v4:
11-108220077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108220077C>T , CM000673.2:g.108220077C>T | GRCh38 |
| NC_000011.9:g.108090804C>T , CM000673.1:g.108090804C>T | GRCh37 |
| NC_000011.8:g.107596014C>T | NCBI36 |
| NG_009830.1:g.2246C>T , LRG_135:g.2246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278612.9:c.37+2423G>A MANE Select | ENSP00000278612.8:n.37+2423G>A | |
| ENST00000278612.8:c.37+2423G>A | ENSP00000278612.8:n.37+2423G>A | |
| ENST00000531384.1:c.37+2423G>A | ENSP00000433497.1:n.37+2423G>A | |
| ENST00000610253.5:n.137+2423G>A | ||
| NM_002519.2:c.37+2423G>A | NP_002510.2:n.37+2423G>A | |
| XM_011542854.1:c.37+2423G>A | XP_011541156.1:n.37+2423G>A | |
| XM_011542855.1:c.37+2423G>A | XP_011541157.1:n.37+2423G>A | |
| NM_001321307.1:c.37+2423G>A | NP_001308236.1:n.37+2423G>A | |
| XM_011542854.2:c.37+2423G>A | XP_011541156.1:n.37+2423G>A | |
| NM_002519.3:c.37+2423G>A MANE Select | NP_002510.2:n.37+2423G>A |