Linked Data
dbSNP Id:
rs1190765966
gnomAD v2:
2-189910805-T-A
gnomAD v3:
2-189046079-T-A
gnomAD v4:
2-189046079-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189046079T>A , CM000664.2:g.189046079T>A | GRCh38 |
| NC_000002.11:g.189910805T>A , CM000664.1:g.189910805T>A | GRCh37 |
| NC_000002.10:g.189619050T>A | NCBI36 |
| NG_011799.1:g.138801A>T | |
| NG_011799.2:g.138801A>T | |
| NG_011799.3:g.184223A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3202-172A>T MANE Select | ENSP00000364000.3:n.3202-172A>T | |
| ENST00000374866.7:c.3202-172A>T | ENSP00000364000.3:n.3202-172A>T | |
| ENST00000618828.1:c.2041-172A>T | ENSP00000482184.1:n.2041-172A>T | |
| NM_000393.3:c.3202-172A>T | NP_000384.2:n.3202-172A>T | |
| XM_011510573.1:c.3064-172A>T | XP_011508875.1:n.3064-172A>T | |
| NM_000393.4:c.3202-172A>T | NP_000384.2:n.3202-172A>T | |
| XM_011510573.3:c.3064-172A>T | XP_011508875.1:n.3064-172A>T | |
| NM_000393.5:c.3202-172A>T MANE Select | NP_000384.2:n.3202-172A>T |