Linked Data
dbSNP Id:
rs2234677
gnomAD v2:
2-113875509-G-T
gnomAD v3:
2-113117932-G-T
gnomAD v4:
2-113117932-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117932G>T , CM000664.2:g.113117932G>T | GRCh38 |
| NC_000002.11:g.113875509G>T , CM000664.1:g.113875509G>T | GRCh37 |
| NC_000002.10:g.113591980G>T | NCBI36 |
| NG_021240.1:g.5040G>T , LRG_188:g.5040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2134G>T | ENSP00000387210.1:n.-272-2134G>T | |
| ENST00000465812.6:n.775+267G>T | ||
| ENST00000259206.9:c.-87G>T | ENSP00000259206.5:n.-87G>T | |
| ENST00000354115.6:c.-87G>T | ENSP00000329072.3:n.-87G>T | |
| ENST00000361779.7:c.-306G>T | ENSP00000354816.3:n.-306G>T | |
| ENST00000409052.5:c.-272-2134G>T | ENSP00000387210.1:n.-272-2134G>T | |
| NM_000577.4:c.-87G>T | NP_000568.1:n.-87G>T | |
| NM_173841.2:c.-87G>T , LRG_188t1:c.-87G>T | NP_776213.1:n.-87G>T | |
| NM_173843.2:c.-306G>T | NP_776215.1:n.-306G>T | |
| XM_011511121.1:c.-272-2134G>T | XP_011509423.1:n.-272-2134G>T | |
| NM_001318914.1:c.-369G>T | NP_001305843.1:n.-369G>T |