Linked Data
ClinVar Variation Id:
128425
ClinVar RCV Id:
RCV000116389
RCV000274903
RCV000388049
RCV000771027
RCV000845577
RCV001094684
RCV001811405
RCV001837460
RCV002390258
dbSNP Id:
rs693
ExAC:
2:21232195 G / A
gnomAD v2:
2-21232195-G-A
gnomAD v3:
2-21009323-G-A
gnomAD v4:
2-21009323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009323G>A , CM000664.2:g.21009323G>A | GRCh38 |
| NC_000002.11:g.21232195G>A , CM000664.1:g.21232195G>A | GRCh37 |
| NC_000002.10:g.21085700G>A | NCBI36 |
| NG_011793.1:g.39751C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.7545C>T MANE Select | ENSP00000233242.1:p.Thr2515= | |
| ENST00000616098.4:c.7545C>T | ENSP00000477990.1:p.Thr2515= | |
| NM_000384.2:c.7545C>T | NP_000375.2:p.Thr2515= | |
| XM_011532809.1:c.5869+1410C>T | XP_011531111.1:n.5869+1410C>T | |
| NM_000384.3:c.7545C>T MANE Select | NP_000375.3:p.Thr2515= |