Linked Data
ClinVar Variation Id:
189306
dbSNP Id:
rs139842930
ExAC:
2:21260868 G / A
gnomAD v2:
2-21260868-G-A
gnomAD v3:
2-21037996-G-A
gnomAD v4:
2-21037996-G-A
PubMed:
PMID:26036859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21037996G>A , CM000664.2:g.21037996G>A | GRCh38 |
| NC_000002.11:g.21260868G>A , CM000664.1:g.21260868G>A | GRCh37 |
| NC_000002.10:g.21114373G>A | NCBI36 |
| NG_011793.1:g.11078C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.384-741C>T | ENSP00000501110.2:n.384-741C>T | |
| ENST00000673882.2:c.384-741C>T | ENSP00000501253.2:n.384-741C>T | |
| ENST00000673739.1:c.252-741C>T | ENSP00000501110.1:n.252-741C>T | |
| ENST00000673882.1:c.252-741C>T | ENSP00000501253.1:n.252-741C>T | |
| ENST00000233242.5:c.499C>T MANE Select | ENSP00000233242.1:p.Pro167Ser | |
| ENST00000399256.4:c.499C>T | ENSP00000382200.4:p.Pro167Ser | |
| ENST00000616098.4:c.499C>T | ENSP00000477990.1:p.Pro167Ser | |
| NM_000384.2:c.499C>T | NP_000375.2:p.Pro167Ser | |
| XM_011532809.1:c.499C>T | XP_011531111.1:p.Pro167Ser | |
| NM_000384.3:c.499C>T MANE Select | NP_000375.3:p.Pro167Ser |