Linked Data
ClinVar Variation Id:
225634
ClinVar RCV Id:
RCV000210942
dbSNP Id:
rs875989839
PubMed:
PMID:27058446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.165450242C>G , CM000668.2:g.165450242C>G | GRCh38 |
| NC_000006.11:g.165863730C>G , CM000668.1:g.165863730C>G | GRCh37 |
| NC_000006.10:g.165783720C>G | NCBI36 |
| NG_031878.2:g.216859G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366882.7:c.-456-14865G>C | ENSP00000355847.3:n.-456-14865G>C | |
| ENST00000366882.6:c.346G>C | ENSP00000355847.2:p.Ala116Pro | |
| ENST00000539869.4:c.1144G>C MANE Select | ENSP00000438284.3:p.Ala382Pro | |
| ENST00000647590.1:c.295G>C | ENSP00000497062.1:p.Ala99Pro | |
| ENST00000647768.3:c.520G>C | ENSP00000497930.3:p.Ala174Pro | |
| ENST00000647837.1:c.471G>C | ENSP00000497085.1:n.471G>C | |
| ENST00000647989.1:n.550G>C | ||
| ENST00000648884.1:c.106G>C | ENSP00000497392.1:p.Ala36Pro | |
| ENST00000648917.1:c.352G>C | ENSP00000497277.1:p.Ala118Pro | |
| ENST00000649247.1:c.461G>C | ||
| ENST00000649273.1:c.268G>C | ||
| ENST00000649761.1:n.502G>C | ||
| ENST00000672859.1:c.397G>C | ENSP00000500900.1:p.Ala133Pro | |
| ENST00000672902.1:c.397G>C | ENSP00000500351.1:p.Ala133Pro | |
| ENST00000676766.1:c.385G>C | ENSP00000504611.1:p.Ala129Pro | |
| ENST00000676767.1:c.206G>C | ||
| ENST00000678161.1:c.*86G>C | ENSP00000503721.1:n.*86G>C | |
| ENST00000678462.1:c.217G>C | ENSP00000503041.1:p.Ala73Pro | |
| ENST00000366882.5:c.316G>C | ENSP00000355847.1:p.Ala106Pro | |
| ENST00000539869.2:c.346G>C | ENSP00000438284.2:p.Ala116Pro | |
| NM_001130690.2:c.346G>C | NP_001124162.1:p.Ala116Pro | |
| NM_006661.3:c.316G>C | NP_006652.1:p.Ala106Pro | |
| XM_006715321.2:c.295G>C | XP_006715384.1:p.Ala99Pro | |
| XM_011535387.1:c.397G>C | XP_011533689.1:p.Ala133Pro | |
| XM_011535388.1:c.316G>C | XP_011533690.1:p.Ala106Pro | |
| XM_011535389.1:c.316G>C | XP_011533691.1:p.Ala106Pro | |
| XM_011535390.1:c.175G>C | XP_011533692.1:p.Ala59Pro | |
| XM_011535391.1:c.106G>C | XP_011533693.1:p.Ala36Pro | |
| XM_011535392.1:c.106G>C | XP_011533694.1:p.Ala36Pro | |
| XM_006715321.4:c.295G>C | XP_006715384.1:p.Ala99Pro | |
| XM_011535387.3:c.472G>C | XP_011533689.2:p.Ala158Pro | |
| XM_011535388.3:c.316G>C | XP_011533690.1:p.Ala106Pro | |
| XM_011535393.3:c.-779G>C | XP_011533695.1:n.-779G>C | |
| XM_017010194.2:c.472G>C | XP_016865683.1:p.Ala158Pro | |
| XM_017010195.2:c.175G>C | XP_016865684.1:p.Ala59Pro | |
| XM_017010196.2:c.106G>C | XP_016865685.1:p.Ala36Pro | |
| XM_017010197.2:c.472G>C | XP_016865686.1:p.Ala158Pro | |
| XM_024446311.1:c.316G>C | XP_024302079.1:p.Ala106Pro | |
| XM_024446312.1:c.106G>C | XP_024302080.1:p.Ala36Pro | |
| XR_001743121.2:n.2547G>C | ||
| NM_001130690.3:c.346G>C | NP_001124162.1:p.Ala116Pro | |
| NM_006661.4:c.316G>C | NP_006652.1:p.Ala106Pro | |
| NM_001385079.1:c.1144G>C MANE Select | NP_001372008.1:p.Ala382Pro |