Linked Data
ClinVar Variation Id:
3141274
ClinVar RCV Id:
RCV004428130
dbSNP Id:
rs1468863780
gnomAD v3:
20-61928205-G-C
gnomAD v4:
20-61928205-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928205G>C , CM000682.2:g.61928205G>C | GRCh38 |
| NC_000020.10:g.60503263G>C , CM000682.1:g.60503263G>C | GRCh37 |
| NC_000020.9:g.59936658G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1787G>C MANE Select | ENSP00000484928.1:p.Ser596Thr | |
| ENST00000543233.2:c.1565G>C | ENSP00000443301.1:p.Ser522Thr | |
| ENST00000611855.4:c.1505G>C | ENSP00000480844.1:p.Ser502Thr | |
| ENST00000614565.4:c.1787G>C | ENSP00000484928.1:p.Ser596Thr | |
| NM_001252338.2:c.1676G>C | NP_001239267.1:p.Ser559Thr | |
| NM_001252339.2:c.1565G>C | NP_001239268.1:p.Ser522Thr | |
| NM_001794.4:c.1787G>C | NP_001785.2:p.Ser596Thr | |
| NM_001794.5:c.1787G>C MANE Select | NP_001785.2:p.Ser596Thr | |
| NM_001252339.3:c.1565G>C | NP_001239268.1:p.Ser522Thr |