Linked Data
ClinVar Variation Id:
292582
dbSNP Id:
rs142097792
ExAC:
1:150772120 G / A
gnomAD v2:
1-150772120-G-A
gnomAD v3:
1-150799644-G-A
gnomAD v4:
1-150799644-G-A
COSMIC:
COSM2182513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799644G>A , CM000663.2:g.150799644G>A | GRCh38 |
| NC_000001.10:g.150772120G>A , CM000663.1:g.150772120G>A | GRCh37 |
| NC_000001.9:g.149038744G>A | NCBI36 |
| NG_011848.1:g.13693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.684C>T MANE Select | ENSP00000271651.3:p.Pro228= | |
| ENST00000443913.2:c.861C>T | ENSP00000405083.2:p.Pro287= | |
| ENST00000480670.2:n.3753C>T | ||
| ENST00000676680.1:c.680C>T | ENSP00000503270.1:p.Pro227Leu | |
| ENST00000676716.1:c.561C>T | ENSP00000504737.1:p.Pro187= | |
| ENST00000676751.1:c.684C>T | ENSP00000502964.1:p.Pro228= | |
| ENST00000676824.1:c.684C>T | ENSP00000504176.1:p.Pro228= | |
| ENST00000676966.1:c.684C>T | ENSP00000503723.1:p.Pro228= | |
| ENST00000676970.1:c.684C>T | ENSP00000503832.1:p.Pro228= | |
| ENST00000677330.1:n.2510C>T | ||
| ENST00000677611.1:n.536C>T | ||
| ENST00000677887.1:c.726C>T | ENSP00000503876.1:p.Pro242= | |
| ENST00000678275.1:c.*576C>T | ENSP00000504796.1:n.*576C>T | |
| ENST00000678337.1:c.720C>T | ENSP00000504759.1:p.Pro240= | |
| ENST00000678725.1:n.1661C>T | ||
| ENST00000679090.1:n.1269C>T | ||
| ENST00000679148.1:n.3646C>T | ||
| ENST00000679171.1:n.3045C>T | ||
| ENST00000679178.1:n.395C>T | ||
| ENST00000679260.1:c.465C>T | ENSP00000504534.1:p.Pro155= | |
| ENST00000271651.7:c.684C>T | ENSP00000271651.3:p.Pro228= | |
| NM_000396.3:c.684C>T | NP_000387.1:p.Pro228= | |
| NM_000396.4:c.684C>T MANE Select | NP_000387.1:p.Pro228= |