Linked Data
dbSNP Id:
rs750973396
ExAC:
14:34269628 G / A
gnomAD v2:
14-34269628-G-A
gnomAD v3:
14-33800422-G-A
gnomAD v4:
14-33800422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800422G>A , CM000676.2:g.33800422G>A | GRCh38 |
| NC_000014.8:g.34269628G>A , CM000676.1:g.34269628G>A | GRCh37 |
| NC_000014.7:g.33339379G>A | NCBI36 |
| NG_013036.1:g.866170G>A | |
| NG_013036.2:g.866170G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356141.9:c.2115G>A MANE Select | ENSP00000348460.4:p.Gly705= | |
| ENST00000551634.6:c.2124G>A | ENSP00000448373.2:p.Gly708= | |
| ENST00000680362.1:c.2015G>A | ||
| ENST00000681323.1:c.793+2841G>A | ||
| ENST00000346562.6:c.2019G>A | ENSP00000319610.5:p.Gly673= | |
| ENST00000356141.8:c.2115G>A | ENSP00000348460.4:p.Gly705= | |
| ENST00000357798.9:c.2076G>A | ENSP00000350446.5:p.Gly692= | |
| ENST00000548645.5:c.2025G>A | ENSP00000448916.1:p.Gly675= | |
| ENST00000551492.5:c.2130G>A | ENSP00000450392.1:p.Gly710= | |
| ENST00000551634.5:c.2037G>A | ENSP00000448373.1:p.Gly679= | |
| NM_001164749.1:c.2115G>A | NP_001158221.1:p.Gly705= | |
| NM_001165893.1:c.2025G>A | NP_001159365.1:p.Gly675= | |
| NM_022123.2:c.2019G>A | NP_071406.1:p.Gly673= | |
| NM_173159.2:c.2076G>A | NP_775182.1:p.Gly692= | |
| XM_005267991.2:c.2136G>A | XP_005268048.1:p.Gly712= | |
| XM_005267992.2:c.2130G>A | XP_005268049.1:p.Gly710= | |
| XM_005267993.2:c.2076G>A | XP_005268050.1:p.Gly692= | |
| XM_011537067.1:c.2166G>A | XP_011535369.1:p.Gly722= | |
| XM_011537068.1:c.2157G>A | XP_011535370.1:p.Gly719= | |
| XM_011537069.1:c.2127G>A | XP_011535371.1:p.Gly709= | |
| XM_011537070.1:c.2070G>A | XP_011535372.1:p.Gly690= | |
| XM_011537071.1:c.2037G>A | XP_011535373.1:p.Gly679= | |
| XM_011537072.1:c.2016G>A | XP_011535374.1:p.Gly672= | |
| XM_011537073.1:c.1809G>A | XP_011535375.1:p.Gly603= | |
| XM_011537074.1:c.1809G>A | XP_011535376.1:p.Gly603= | |
| XM_005267991.3:c.2223G>A | XP_005268048.2:p.Gly741= | |
| XM_005267992.3:c.2217G>A | XP_005268049.2:p.Gly739= | |
| XM_011537067.2:c.2166G>A | XP_011535369.1:p.Gly722= | |
| XM_011537069.2:c.2214G>A | XP_011535371.2:p.Gly738= | |
| XM_011537070.2:c.2070G>A | XP_011535372.1:p.Gly690= | |
| XM_011537071.2:c.2124G>A | XP_011535373.2:p.Gly708= | |
| XM_011537072.2:c.2016G>A | XP_011535374.1:p.Gly672= | |
| XM_017021582.1:c.2274G>A | XP_016877071.1:p.Gly758= | |
| XM_017021583.1:c.2265G>A | XP_016877072.1:p.Gly755= | |
| XM_017021584.1:c.2184G>A | XP_016877073.1:p.Gly728= | |
| XM_017021585.1:c.2133G>A | XP_016877074.1:p.Gly711= | |
| XM_017021586.1:c.1809G>A | XP_016877075.1:p.Gly603= | |
| XM_017021587.1:c.1809G>A | XP_016877076.1:p.Gly603= | |
| XM_017021588.1:c.1809G>A | XP_016877077.1:p.Gly603= | |
| NM_001164749.2:c.2115G>A MANE Select | NP_001158221.1:p.Gly705= | |
| NM_001165893.2:c.2025G>A | NP_001159365.1:p.Gly675= | |
| NM_022123.3:c.2019G>A | NP_071406.1:p.Gly673= | |
| NM_173159.3:c.2076G>A | NP_775182.1:p.Gly692= | |
| NM_001394988.1:c.2070G>A | NP_001381917.1:p.Gly690= | |
| NM_001394989.1:c.2016G>A | NP_001381918.1:p.Gly672= |