Linked Data
dbSNP Id:
rs1879282
gnomAD v2:
2-31029835-C-T
gnomAD v3:
2-30806969-C-T
gnomAD v4:
2-30806969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.30806969C>T , CM000664.2:g.30806969C>T | GRCh38 |
| NC_000002.11:g.31029835C>T , CM000664.1:g.31029835C>T | GRCh37 |
| NC_000002.10:g.30883339C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295055.12:c.-33+333G>A MANE Select | ENSP00000295055.8:n.-33+333G>A | |
| ENST00000458085.6:c.-119+333G>A | ENSP00000416191.2:n.-119+333G>A | |
| ENST00000465960.2:n.317+333G>A | ||
| ENST00000485248.2:c.-119+333G>A | ENSP00000440723.1:n.-119+333G>A | |
| NM_144575.2:c.-33+333G>A | NP_653176.2:n.-33+333G>A | |
| XM_011533159.1:c.-33+333G>A | XP_011531461.1:n.-33+333G>A | |
| XM_011533160.1:c.-119+333G>A | XP_011531462.1:n.-119+333G>A | |
| XM_011533161.1:c.-33+333G>A | XP_011531463.1:n.-33+333G>A | |
| XM_011533162.1:c.-33+333G>A | XP_011531464.1:n.-33+333G>A | |
| XM_011533163.1:c.-33+333G>A | XP_011531465.1:n.-33+333G>A | |
| XR_939741.1:n.145+333G>A | ||
| XR_939742.1:n.145+333G>A | ||
| XR_939743.1:n.145+333G>A | ||
| XM_011533159.3:c.-33+333G>A | XP_011531461.1:n.-33+333G>A | |
| XM_011533160.2:c.-119+333G>A | XP_011531462.1:n.-119+333G>A | |
| XM_011533161.3:c.-33+333G>A | XP_011531463.1:n.-33+333G>A | |
| XM_011533163.3:c.-33+333G>A | XP_011531465.1:n.-33+333G>A | |
| XM_017005264.1:c.-119+333G>A | XP_016860753.1:n.-119+333G>A | |
| XM_017005266.2:c.-33+333G>A | XP_016860755.1:n.-33+333G>A | |
| XR_001739074.1:n.330+333G>A | ||
| XR_939741.3:n.145+333G>A | ||
| XR_939742.3:n.145+333G>A | ||
| XR_939743.3:n.145+333G>A | ||
| NM_144575.3:c.-33+333G>A MANE Select | NP_653176.2:n.-33+333G>A |