Linked Data
ClinVar Variation Id:
133826
ClinVar RCV Id:
RCV000120478
dbSNP Id:
rs55821768
ExAC:
3:105378061 G / C
gnomAD v2:
3-105378061-G-C
gnomAD v3:
3-105659217-G-C
gnomAD v4:
3-105659217-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.105659217G>C , CM000665.2:g.105659217G>C | GRCh38 |
| NC_000003.11:g.105378061G>C , CM000665.1:g.105378061G>C | GRCh37 |
| NC_000003.10:g.106860751G>C | NCBI36 |
| NG_055547.1:g.215336C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394030.8:c.2702C>G MANE Select | ENSP00000377598.4:p.Ala901Gly | |
| ENST00000642241.1:c.1038C>G | ||
| ENST00000643322.1:c.*277C>G | ENSP00000496352.1:n.*277C>G | |
| ENST00000645425.1:c.*115C>G | ENSP00000494383.1:n.*115C>G | |
| ENST00000645759.1:c.*2113C>G | ENSP00000496297.1:n.*2113C>G | |
| ENST00000646499.1:c.*2341C>G | ENSP00000496708.1:n.*2341C>G | |
| ENST00000646825.1:c.*115C>G | ENSP00000496761.1:n.*115C>G | |
| ENST00000264122.8:c.2702C>G | ENSP00000264122.4:p.Ala901Gly | |
| ENST00000394030.6:c.719C>G | ENSP00000377598.2:p.Ala240Gly | |
| ENST00000407712.1:c.347C>G | ENSP00000384170.1:p.Ala116Gly | |
| ENST00000476370.1:n.3774C>G | ||
| NM_170662.3:c.2702C>G | NP_733762.2:p.Ala901Gly | |
| XM_005247853.2:c.2702C>G | XP_005247910.1:p.Ala901Gly | |
| XM_011513257.1:c.2702C>G | XP_011511559.1:p.Ala901Gly | |
| XM_011513258.1:c.2570C>G | XP_011511560.1:p.Ala857Gly | |
| XR_924204.1:n.2742C>G | ||
| XR_924205.1:n.2739C>G | ||
| NM_001321786.1:c.2786C>G | NP_001308715.1:p.Ala929Gly | |
| NM_001321788.1:c.2702C>G | NP_001308717.1:p.Ala901Gly | |
| NM_001321789.1:c.2639C>G | NP_001308718.1:p.Ala880Gly | |
| NM_001321790.1:c.2636C>G | NP_001308719.1:p.Ala879Gly | |
| NM_001321791.1:c.2570C>G | NP_001308720.1:p.Ala857Gly | |
| NM_001321793.1:c.2570C>G | NP_001308722.1:p.Ala857Gly | |
| NM_001321794.1:c.2555C>G | NP_001308723.1:p.Ala852Gly | |
| NM_001321795.1:c.2555C>G | NP_001308724.1:p.Ala852Gly | |
| NM_001321796.1:c.2555C>G | NP_001308725.1:p.Ala852Gly | |
| NM_001321797.1:c.2423C>G | NP_001308726.1:p.Ala808Gly | |
| NM_001321798.1:c.2423C>G | NP_001308727.1:p.Ala808Gly | |
| NM_001321799.1:c.2423C>G | NP_001308728.1:p.Ala808Gly | |
| NM_001321806.1:c.1922C>G | NP_001308735.1:p.Ala641Gly | |
| NM_001321807.1:c.1922C>G | NP_001308736.1:p.Ala641Gly | |
| NM_001321808.1:c.1790C>G | NP_001308737.1:p.Ala597Gly | |
| NM_001321811.1:c.1775C>G | NP_001308740.1:p.Ala592Gly | |
| NM_001321813.1:c.1775C>G | NP_001308742.1:p.Ala592Gly | |
| NM_001321816.1:c.1643C>G | NP_001308745.1:p.Ala548Gly | |
| NM_001321820.1:c.1382C>G | NP_001308749.1:p.Ala461Gly | |
| NM_001321822.1:c.1373C>G | NP_001308751.1:p.Ala458Gly | |
| NM_170662.5:c.2702C>G MANE Select | NP_733762.2:p.Ala901Gly | |
| NR_135806.1:n.3249C>G | ||
| NR_135807.1:n.3095C>G | ||
| NR_135808.1:n.3050C>G | ||
| NR_135809.1:n.3006C>G | ||
| NR_135810.1:n.2951C>G | ||
| NR_135811.1:n.2871C>G | ||
| NR_135812.1:n.2730C>G | ||
| XM_017007395.1:c.2768C>G | XP_016862884.1:p.Ala923Gly | |
| XM_017007396.1:c.2654C>G | XP_016862885.1:p.Ala885Gly | |
| XM_017007397.1:c.2639C>G | XP_016862886.1:p.Ala880Gly | |
| XM_017007398.1:c.2621C>G | XP_016862887.1:p.Ala874Gly | |
| XM_017007399.1:c.2555C>G | XP_016862888.1:p.Ala852Gly | |
| XM_017007400.1:c.2507C>G | XP_016862889.1:p.Ala836Gly | |
| XR_001740338.1:n.2995C>G | ||
| XR_001740339.1:n.2992C>G | ||
| NM_001321788.2:c.2702C>G | NP_001308717.1:p.Ala901Gly | |
| NM_001321790.2:c.2636C>G | NP_001308719.1:p.Ala879Gly | |
| NM_001321791.2:c.2570C>G | NP_001308720.1:p.Ala857Gly | |
| NM_001321793.2:c.2570C>G | NP_001308722.1:p.Ala857Gly | |
| NM_001321794.2:c.2555C>G | NP_001308723.1:p.Ala852Gly | |
| NM_001321795.2:c.2555C>G | NP_001308724.1:p.Ala852Gly | |
| NM_001321796.2:c.2555C>G | NP_001308725.1:p.Ala852Gly | |
| NM_001321797.2:c.2423C>G | NP_001308726.1:p.Ala808Gly | |
| NM_001321798.2:c.2423C>G | NP_001308727.1:p.Ala808Gly | |
| NM_001321799.2:c.2423C>G | NP_001308728.1:p.Ala808Gly | |
| NM_001321806.2:c.1922C>G | NP_001308735.1:p.Ala641Gly | |
| NM_001321807.2:c.1922C>G | NP_001308736.1:p.Ala641Gly | |
| NM_001321808.2:c.1790C>G | NP_001308737.1:p.Ala597Gly | |
| NM_001321811.2:c.1775C>G | NP_001308740.1:p.Ala592Gly | |
| NM_001321816.2:c.1643C>G | NP_001308745.1:p.Ala548Gly | |
| NM_001321820.2:c.1382C>G | NP_001308749.1:p.Ala461Gly | |
| NM_001321822.2:c.1373C>G | NP_001308751.1:p.Ala458Gly | |
| NR_135806.2:n.3218C>G | ||
| NR_135807.2:n.3064C>G | ||
| NR_135808.2:n.3019C>G | ||
| NR_135809.2:n.2975C>G | ||
| NR_135810.2:n.2930C>G | ||
| NR_135811.2:n.2840C>G |