Linked Data
dbSNP Id:
rs1060878
ExAC:
14:39818145 G / C
gnomAD v2:
14-39818145-G-C
gnomAD v3:
14-39348941-G-C
gnomAD v4:
14-39348941-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39348941G>C , CM000676.2:g.39348941G>C | GRCh38 |
| NC_000014.8:g.39818145G>C , CM000676.1:g.39818145G>C | GRCh37 |
| NC_000014.7:g.38887896G>C | NCBI36 |
| NG_030349.1:g.88670G>C | |
| NG_030349.3:g.120021G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000640607.2:c.4036G>C MANE Select | ENSP00000491014.1:p.Gly1346Arg | |
| ENST00000640607.1:c.4036G>C | ENSP00000491014.1:p.Gly1346Arg | |
| ENST00000280083.7:c.2212G>C | ENSP00000280083.3:p.Gly738Arg | |
| ENST00000341502.9:c.2212G>C | ENSP00000339286.5:p.Gly738Arg | |
| ENST00000341749.7:c.2176G>C | ENSP00000343897.3:p.Gly726Arg | |
| ENST00000348007.7:c.2083G>C | ENSP00000343912.3:p.Gly695Arg | |
| ENST00000396158.6:c.2227G>C | ENSP00000379462.2:p.Gly743Arg | |
| ENST00000396165.8:c.2125G>C | ENSP00000379468.4:p.Gly709Arg | |
| ENST00000553352.1:c.2125G>C | ENSP00000450449.1:p.Gly709Arg | |
| ENST00000553383.1:n.426G>C | ||
| ENST00000553728.1:c.3817G>C | ENSP00000452252.1:p.Gly1273Arg | |
| ENST00000556148.5:c.1987G>C | ENSP00000452562.1:p.Gly663Arg | |
| ENST00000557038.5:c.1972G>C | ENSP00000450869.1:p.Gly658Arg | |
| NM_001247988.1:c.1996G>C | NP_001234917.1:p.Gly666Arg | |
| NM_001247989.1:c.2227G>C | NP_001234918.1:p.Gly743Arg | |
| NM_001247990.1:c.1987G>C | NP_001234919.1:p.Gly663Arg | |
| NM_005930.3:c.2212G>C | NP_005921.2:p.Gly738Arg | |
| NM_203354.2:c.2176G>C | NP_976229.1:p.Gly726Arg | |
| NM_203355.2:c.2083G>C | NP_976230.1:p.Gly695Arg | |
| NM_203356.2:c.2125G>C | NP_976231.1:p.Gly709Arg | |
| XM_005267648.3:c.2194G>C | XP_005267705.1:p.Gly732Arg | |
| XM_006720148.1:c.2125G>C | XP_006720211.1:p.Gly709Arg | |
| XM_011536775.1:c.2239G>C | XP_011535077.1:p.Gly747Arg | |
| XM_011536776.1:c.2221G>C | XP_011535078.1:p.Gly741Arg | |
| XM_011536778.1:c.2203G>C | XP_011535080.1:p.Gly735Arg | |
| XM_011536779.1:c.2152G>C | XP_011535081.1:p.Gly718Arg | |
| XM_011536780.1:c.2152G>C | XP_011535082.1:p.Gly718Arg | |
| XM_011536781.1:c.2152G>C | XP_011535083.1:p.Gly718Arg | |
| XM_011536782.1:c.1999G>C | XP_011535084.1:p.Gly667Arg | |
| XM_011536783.1:c.1999G>C | XP_011535085.1:p.Gly667Arg | |
| XM_011536784.1:c.1972G>C | XP_011535086.1:p.Gly658Arg | |
| XM_011536785.1:c.1972G>C | XP_011535087.1:p.Gly658Arg | |
| NM_001329214.2:c.4036G>C | NP_001316143.1:p.Gly1346Arg | |
| NM_001354137.1:c.2125G>C | NP_001341066.1:p.Gly709Arg | |
| NM_001354138.1:c.2125G>C | NP_001341067.1:p.Gly709Arg | |
| NM_001354139.1:c.1996G>C | NP_001341068.1:p.Gly666Arg | |
| NM_001354140.1:c.1972G>C | NP_001341069.1:p.Gly658Arg | |
| NM_001354141.1:c.1972G>C | NP_001341070.1:p.Gly658Arg | |
| NM_001354142.1:c.1843G>C | NP_001341071.1:p.Gly615Arg | |
| NM_001354143.1:c.1843G>C | NP_001341072.1:p.Gly615Arg | |
| NM_001354144.1:c.1843G>C | NP_001341073.1:p.Gly615Arg | |
| NM_001354145.1:c.1843G>C | NP_001341074.1:p.Gly615Arg | |
| NM_001354146.1:c.2047G>C | NP_001341075.1:p.Gly683Arg | |
| NM_001354147.1:c.2047G>C | NP_001341076.1:p.Gly683Arg | |
| NM_001354148.1:c.2125G>C | NP_001341077.1:p.Gly709Arg | |
| NM_001354149.1:c.1918G>C | NP_001341078.1:p.Gly640Arg | |
| NM_001354150.1:c.2194G>C | NP_001341079.1:p.Gly732Arg | |
| NM_001354151.1:c.2239G>C | NP_001341080.1:p.Gly747Arg | |
| NM_001354152.1:c.2110G>C | NP_001341081.1:p.Gly704Arg | |
| NM_001354153.1:c.2005G>C | NP_001341082.1:p.Gly669Arg | |
| NM_001354154.1:c.2212G>C | NP_001341083.1:p.Gly738Arg | |
| NM_001354155.1:c.2083G>C | NP_001341084.1:p.Gly695Arg | |
| NM_001354156.1:c.1894G>C | NP_001341085.1:p.Gly632Arg | |
| NM_001354157.1:c.2134G>C | NP_001341086.1:p.Gly712Arg | |
| NR_148721.1:n.2286G>C | ||
| NR_148722.1:n.2584G>C | ||
| NR_148723.1:n.2474G>C | ||
| XM_011536778.2:c.2203G>C | XP_011535080.1:p.Gly735Arg | |
| XM_011536785.2:c.1972G>C | XP_011535087.1:p.Gly658Arg | |
| XM_017021314.1:c.2254G>C | XP_016876803.1:p.Gly752Arg | |
| XM_017021315.2:c.2236G>C | XP_016876804.1:p.Gly746Arg | |
| XM_017021316.1:c.2218G>C | XP_016876805.1:p.Gly740Arg | |
| XM_017021317.2:c.2167G>C | XP_016876806.1:p.Gly723Arg | |
| XM_017021318.1:c.2167G>C | XP_016876807.1:p.Gly723Arg | |
| XM_017021319.1:c.2167G>C | XP_016876808.1:p.Gly723Arg | |
| XM_017021323.1:c.2014G>C | XP_016876812.1:p.Gly672Arg | |
| XM_017021324.2:c.2014G>C | XP_016876813.1:p.Gly672Arg | |
| XM_017021327.1:c.1843G>C | XP_016876816.1:p.Gly615Arg | |
| XM_017021330.1:c.2167G>C | XP_016876819.1:p.Gly723Arg | |
| XM_024449592.1:c.4078G>C | XP_024305360.1:p.Gly1360Arg | |
| XM_024449593.1:c.4063G>C | XP_024305361.1:p.Gly1355Arg | |
| XM_024449594.1:c.4051G>C | XP_024305362.1:p.Gly1351Arg | |
| XM_024449595.1:c.3949G>C | XP_024305363.1:p.Gly1317Arg | |
| XM_024449596.1:c.3907G>C | XP_024305364.1:p.Gly1303Arg | |
| XM_024449598.1:c.2014G>C | XP_024305366.1:p.Gly672Arg | |
| NM_001247990.2:c.1987G>C | NP_001234919.1:p.Gly663Arg | |
| NM_001329214.3:c.4036G>C | NP_001316143.1:p.Gly1346Arg | |
| NM_001354140.2:c.1972G>C | NP_001341069.1:p.Gly658Arg | |
| NM_001354141.2:c.1972G>C | NP_001341070.1:p.Gly658Arg | |
| NM_001354144.2:c.1843G>C | NP_001341073.1:p.Gly615Arg | |
| NM_001354145.2:c.1843G>C | NP_001341074.1:p.Gly615Arg | |
| NM_001354146.2:c.2047G>C | NP_001341075.1:p.Gly683Arg | |
| NM_001354150.2:c.2194G>C | NP_001341079.1:p.Gly732Arg | |
| NM_001354151.2:c.2239G>C | NP_001341080.1:p.Gly747Arg | |
| NM_001354152.2:c.2110G>C | NP_001341081.1:p.Gly704Arg | |
| NM_001354153.2:c.2005G>C | NP_001341082.1:p.Gly669Arg | |
| NM_001354154.2:c.2212G>C | NP_001341083.1:p.Gly738Arg | |
| NM_001354155.2:c.2083G>C | NP_001341084.1:p.Gly695Arg | |
| NM_001354156.2:c.1894G>C | NP_001341085.1:p.Gly632Arg | |
| NM_001354157.2:c.2134G>C | NP_001341086.1:p.Gly712Arg | |
| NM_005930.4:c.2212G>C | NP_005921.2:p.Gly738Arg | |
| NM_203354.3:c.2176G>C | NP_976229.1:p.Gly726Arg | |
| NM_203355.3:c.2083G>C | NP_976230.1:p.Gly695Arg | |
| NR_148722.2:n.2323G>C | ||
| NR_148723.2:n.2213G>C | ||
| NM_001247989.2:c.2227G>C | NP_001234918.1:p.Gly743Arg | |
| NM_001329214.4:c.4036G>C MANE Select | NP_001316143.1:p.Gly1346Arg | |
| NM_001354137.2:c.2125G>C | NP_001341066.1:p.Gly709Arg | |
| NM_001354139.2:c.1996G>C | NP_001341068.1:p.Gly666Arg |