Linked Data
ClinVar Variation Id:
220917
dbSNP Id:
rs55817813
ExAC:
4:55602912 G / A
gnomAD v2:
4-55602912-G-A
gnomAD v3:
4-54736746-G-A
gnomAD v4:
4-54736746-G-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54736746G>A , CM000666.2:g.54736746G>A | GRCh38 |
| NC_000004.11:g.55602912G>A , CM000666.1:g.55602912G>A | GRCh37 |
| NC_000004.10:g.55297669G>A | NCBI36 |
| NG_007456.1:g.83752G>A , LRG_307:g.83752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2610G>A | ENSP00000390987.3:p.Pro870= | |
| ENST00000684818.1:n.1314G>A | ||
| ENST00000685269.1:n.2700G>A | ||
| ENST00000686011.1:c.2607G>A | ENSP00000509704.1:p.Pro869= | |
| ENST00000687109.1:c.2625G>A | ENSP00000509371.1:p.Pro875= | |
| ENST00000687208.1:n.3034G>A | ||
| ENST00000687246.1:c.2487G>A | ENSP00000509114.1:p.Pro829= | |
| ENST00000687265.1:n.2780G>A | ||
| ENST00000687295.1:c.2610G>A | ENSP00000509450.1:p.Pro870= | |
| ENST00000688060.1:n.419G>A | ||
| ENST00000689832.1:c.2622G>A | ENSP00000509084.1:p.Pro874= | |
| ENST00000689994.1:c.2112G>A | ENSP00000509156.1:p.Pro704= | |
| ENST00000690543.1:c.2613G>A | ENSP00000508831.1:p.Pro871= | |
| ENST00000690917.1:n.2840G>A | ||
| ENST00000691361.1:n.1532G>A | ||
| ENST00000692301.1:n.1314G>A | ||
| ENST00000692783.1:c.2619G>A | ENSP00000508733.1:p.Pro873= | |
| ENST00000692991.1:n.2719G>A | ||
| ENST00000288135.6:c.2622G>A MANE Select | ENSP00000288135.6:p.Pro874= | |
| ENST00000288135.5:c.2622G>A | ENSP00000288135.5:p.Pro874= | |
| ENST00000412167.6:c.2610G>A | ENSP00000390987.2:p.Pro870= | |
| NM_000222.2:c.2622G>A , LRG_307t1:c.2622G>A | NP_000213.1:p.Pro874= | |
| NM_001093772.1:c.2610G>A | NP_001087241.1:p.Pro870= | |
| XM_005265740.1:c.2625G>A | XP_005265797.1:p.Pro875= | |
| XM_005265741.1:c.2622G>A | XP_005265798.1:p.Pro874= | |
| XM_005265742.1:c.2613G>A | XP_005265799.1:p.Pro871= | |
| XM_005265742.3:c.2613G>A | XP_005265799.1:p.Pro871= | |
| XM_017008178.1:c.2619G>A | XP_016863667.1:p.Pro873= | |
| XM_017008179.1:c.2610G>A | XP_016863668.1:p.Pro870= | |
| XM_017008180.1:c.2607G>A | XP_016863669.1:p.Pro869= | |
| NM_000222.3:c.2622G>A MANE Select | NP_000213.1:p.Pro874= | |
| NM_001093772.2:c.2610G>A | NP_001087241.1:p.Pro870= | |
| NM_001385284.1:c.2625G>A | NP_001372213.1:p.Pro875= | |
| NM_001385285.1:c.2619G>A | NP_001372214.1:p.Pro873= | |
| NM_001385286.1:c.2607G>A | NP_001372215.1:p.Pro869= | |
| NM_001385288.1:c.2613G>A | NP_001372217.1:p.Pro871= | |
| NM_001385290.1:c.2622G>A | NP_001372219.1:p.Pro874= | |
| NM_001385292.1:c.2610G>A | NP_001372221.1:p.Pro870= |