Linked Data
ClinVar Variation Id:
218442
ClinVar RCV Id:
RCV000202991
RCV000321016
RCV000610226
RCV000771090
RCV001094739
RCV001837748
RCV002426956
RCV003114365
dbSNP Id:
rs12714192
ExAC:
2:21249682 G / T
gnomAD v2:
2-21249682-G-T
gnomAD v3:
2-21026810-G-T
gnomAD v4:
2-21026810-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21026810G>T , CM000664.2:g.21026810G>T | GRCh38 |
| NC_000002.11:g.21249682G>T , CM000664.1:g.21249682G>T | GRCh37 |
| NC_000002.10:g.21103187G>T | NCBI36 |
| NG_011793.1:g.22264C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*1528C>A | ENSP00000501110.2:n.*1528C>A | |
| ENST00000673882.2:c.*1528C>A | ENSP00000501253.2:n.*1528C>A | |
| ENST00000673739.1:c.1936C>A | ENSP00000501110.1:n.1936C>A | |
| ENST00000673882.1:c.1936C>A | ENSP00000501253.1:n.1936C>A | |
| ENST00000233242.5:c.2222C>A MANE Select | ENSP00000233242.1:p.Thr741Asn | |
| ENST00000399256.4:c.2222C>A | ENSP00000382200.4:p.Thr741Asn | |
| ENST00000616098.4:c.2222C>A | ENSP00000477990.1:p.Thr741Asn | |
| NM_000384.2:c.2222C>A | NP_000375.2:p.Thr741Asn | |
| XM_011532809.1:c.2222C>A | XP_011531111.1:p.Thr741Asn | |
| NM_000384.3:c.2222C>A MANE Select | NP_000375.3:p.Thr741Asn |