Linked Data
ClinVar Variation Id:
136656
dbSNP Id:
rs143675846
ExAC:
2:152955550 C / A
gnomAD v2:
2-152955550-C-A
gnomAD v3:
2-152099036-C-A
gnomAD v4:
2-152099036-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152099036C>A , CM000664.2:g.152099036C>A | GRCh38 |
| NC_000002.11:g.152955550C>A , CM000664.1:g.152955550C>A | GRCh37 |
| NC_000002.10:g.152663796C>A | NCBI36 |
| NG_012641.1:g.5044G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470066.2:n.105G>T | ||
| ENST00000539935.7:c.-25G>T MANE Select | ENSP00000438949.1:n.-25G>T | |
| ENST00000637309.1:c.-25G>T | ENSP00000490127.1:n.-25G>T | |
| ENST00000539935.5:c.-25G>T | ENSP00000438949.1:n.-25G>T | |
| NM_000726.3:c.-25G>T | NP_000717.2:n.-25G>T | |
| NM_001145798.1:c.-25G>T | NP_001139270.1:n.-25G>T | |
| XM_011511797.1:c.-25G>T | XP_011510099.1:n.-25G>T | |
| XM_011511798.1:c.-25G>T | XP_011510100.1:n.-25G>T | |
| XM_011511799.1:c.-25G>T | XP_011510101.1:n.-25G>T | |
| XR_923022.1:n.953G>T | ||
| XR_923023.1:n.953G>T | ||
| NM_000726.4:c.-25G>T | NP_000717.2:n.-25G>T | |
| NM_001145798.2:c.-25G>T | NP_001139270.1:n.-25G>T | |
| XM_011511797.3:c.-25G>T | XP_011510099.1:n.-25G>T | |
| XR_002959337.1:n.129G>T | ||
| XR_923022.3:n.129G>T | ||
| NM_000726.5:c.-25G>T MANE Select | NP_000717.2:n.-25G>T |