Linked Data
dbSNP Id:
rs765912767
ExAC:
14:34269627 G / C
gnomAD v2:
14-34269627-G-C
gnomAD v3:
14-33800421-G-C
gnomAD v4:
14-33800421-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800421G>C , CM000676.2:g.33800421G>C | GRCh38 |
| NC_000014.8:g.34269627G>C , CM000676.1:g.34269627G>C | GRCh37 |
| NC_000014.7:g.33339378G>C | NCBI36 |
| NG_013036.1:g.866169G>C | |
| NG_013036.2:g.866169G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2114G>C MANE Select | ENSP00000348460.4:p.Gly705Ala | |
| ENST00000551634.6:c.2123G>C | ENSP00000448373.2:p.Gly708Ala | |
| ENST00000680362.1:c.2014G>C | ||
| ENST00000681323.1:c.793+2840G>C | ||
| ENST00000346562.6:c.2018G>C | ENSP00000319610.5:p.Gly673Ala | |
| ENST00000356141.8:c.2114G>C | ENSP00000348460.4:p.Gly705Ala | |
| ENST00000357798.9:c.2075G>C | ENSP00000350446.5:p.Gly692Ala | |
| ENST00000548645.5:c.2024G>C | ENSP00000448916.1:p.Gly675Ala | |
| ENST00000551492.5:c.2129G>C | ENSP00000450392.1:p.Gly710Ala | |
| ENST00000551634.5:c.2036G>C | ENSP00000448373.1:p.Gly679Ala | |
| NM_001164749.1:c.2114G>C | NP_001158221.1:p.Gly705Ala | |
| NM_001165893.1:c.2024G>C | NP_001159365.1:p.Gly675Ala | |
| NM_022123.2:c.2018G>C | NP_071406.1:p.Gly673Ala | |
| NM_173159.2:c.2075G>C | NP_775182.1:p.Gly692Ala | |
| XM_005267991.2:c.2135G>C | XP_005268048.1:p.Gly712Ala | |
| XM_005267992.2:c.2129G>C | XP_005268049.1:p.Gly710Ala | |
| XM_005267993.2:c.2075G>C | XP_005268050.1:p.Gly692Ala | |
| XM_011537067.1:c.2165G>C | XP_011535369.1:p.Gly722Ala | |
| XM_011537068.1:c.2156G>C | XP_011535370.1:p.Gly719Ala | |
| XM_011537069.1:c.2126G>C | XP_011535371.1:p.Gly709Ala | |
| XM_011537070.1:c.2069G>C | XP_011535372.1:p.Gly690Ala | |
| XM_011537071.1:c.2036G>C | XP_011535373.1:p.Gly679Ala | |
| XM_011537072.1:c.2015G>C | XP_011535374.1:p.Gly672Ala | |
| XM_011537073.1:c.1808G>C | XP_011535375.1:p.Gly603Ala | |
| XM_011537074.1:c.1808G>C | XP_011535376.1:p.Gly603Ala | |
| XM_005267991.3:c.2222G>C | XP_005268048.2:p.Gly741Ala | |
| XM_005267992.3:c.2216G>C | XP_005268049.2:p.Gly739Ala | |
| XM_011537067.2:c.2165G>C | XP_011535369.1:p.Gly722Ala | |
| XM_011537069.2:c.2213G>C | XP_011535371.2:p.Gly738Ala | |
| XM_011537070.2:c.2069G>C | XP_011535372.1:p.Gly690Ala | |
| XM_011537071.2:c.2123G>C | XP_011535373.2:p.Gly708Ala | |
| XM_011537072.2:c.2015G>C | XP_011535374.1:p.Gly672Ala | |
| XM_017021582.1:c.2273G>C | XP_016877071.1:p.Gly758Ala | |
| XM_017021583.1:c.2264G>C | XP_016877072.1:p.Gly755Ala | |
| XM_017021584.1:c.2183G>C | XP_016877073.1:p.Gly728Ala | |
| XM_017021585.1:c.2132G>C | XP_016877074.1:p.Gly711Ala | |
| XM_017021586.1:c.1808G>C | XP_016877075.1:p.Gly603Ala | |
| XM_017021587.1:c.1808G>C | XP_016877076.1:p.Gly603Ala | |
| XM_017021588.1:c.1808G>C | XP_016877077.1:p.Gly603Ala | |
| NM_001164749.2:c.2114G>C MANE Select | NP_001158221.1:p.Gly705Ala | |
| NM_001165893.2:c.2024G>C | NP_001159365.1:p.Gly675Ala | |
| NM_022123.3:c.2018G>C | NP_071406.1:p.Gly673Ala | |
| NM_173159.3:c.2075G>C | NP_775182.1:p.Gly692Ala | |
| NM_001394988.1:c.2069G>C | NP_001381917.1:p.Gly690Ala | |
| NM_001394989.1:c.2015G>C | NP_001381918.1:p.Gly672Ala |