Linked Data
dbSNP Id:
rs759105782
ExAC:
2:220290350 T / A
gnomAD v2:
2-220290350-T-A
gnomAD v4:
2-219425628-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425628T>A , CM000664.2:g.219425628T>A | GRCh38 |
| NC_000002.11:g.220290350T>A , CM000664.1:g.220290350T>A | GRCh37 |
| NC_000002.10:g.219998594T>A | NCBI36 |
| NG_008043.1:g.12252T>A , LRG_380:g.12252T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.763-35T>A | ||
| ENST00000683013.1:n.677-35T>A | ||
| ENST00000373960.4:c.1289-35T>A MANE Select | ENSP00000363071.3:n.1289-35T>A | |
| ENST00000373960.3:c.1289-35T>A | ENSP00000363071.3:n.1289-35T>A | |
| ENST00000483395.1:n.109T>A | ||
| NM_001927.3:c.1289-35T>A , LRG_380t1:c.1289-35T>A | NP_001918.3:n.1289-35T>A | |
| NM_001927.4:c.1289-35T>A MANE Select | NP_001918.3:n.1289-35T>A | |
| NM_001382708.1:c.1286-35T>A | NP_001369637.1:n.1286-35T>A | |
| NM_001382709.1:c.857-35T>A | NP_001369638.1:n.857-35T>A | |
| NM_001382710.1:c.1220-35T>A | NP_001369639.1:n.1220-35T>A | |
| NM_001382711.1:c.1268-35T>A | NP_001369640.1:n.1268-35T>A | |
| NM_001382712.1:c.1289-35T>A | NP_001369641.1:n.1289-35T>A | |
| NM_001382713.1:c.1019-35T>A | NP_001369642.1:n.1019-35T>A |