Linked Data
dbSNP Id:
rs1173937100
gnomAD v2:
14-34269600-G-A
gnomAD v3:
14-33800394-G-A
gnomAD v4:
14-33800394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800394G>A , CM000676.2:g.33800394G>A | GRCh38 |
| NC_000014.8:g.34269600G>A , CM000676.1:g.34269600G>A | GRCh37 |
| NC_000014.7:g.33339351G>A | NCBI36 |
| NG_013036.1:g.866142G>A | |
| NG_013036.2:g.866142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2087G>A MANE Select | ENSP00000348460.4:p.Gly696Asp | |
| ENST00000551634.6:c.2096G>A | ENSP00000448373.2:p.Gly699Asp | |
| ENST00000680362.1:c.1987G>A | ||
| ENST00000681323.1:c.793+2813G>A | ||
| ENST00000346562.6:c.1991G>A | ENSP00000319610.5:p.Gly664Asp | |
| ENST00000356141.8:c.2087G>A | ENSP00000348460.4:p.Gly696Asp | |
| ENST00000357798.9:c.2048G>A | ENSP00000350446.5:p.Gly683Asp | |
| ENST00000548645.5:c.1997G>A | ENSP00000448916.1:p.Gly666Asp | |
| ENST00000551492.5:c.2102G>A | ENSP00000450392.1:p.Gly701Asp | |
| ENST00000551634.5:c.2009G>A | ENSP00000448373.1:p.Gly670Asp | |
| NM_001164749.1:c.2087G>A | NP_001158221.1:p.Gly696Asp | |
| NM_001165893.1:c.1997G>A | NP_001159365.1:p.Gly666Asp | |
| NM_022123.2:c.1991G>A | NP_071406.1:p.Gly664Asp | |
| NM_173159.2:c.2048G>A | NP_775182.1:p.Gly683Asp | |
| XM_005267991.2:c.2108G>A | XP_005268048.1:p.Gly703Asp | |
| XM_005267992.2:c.2102G>A | XP_005268049.1:p.Gly701Asp | |
| XM_005267993.2:c.2048G>A | XP_005268050.1:p.Gly683Asp | |
| XM_011537067.1:c.2138G>A | XP_011535369.1:p.Gly713Asp | |
| XM_011537068.1:c.2129G>A | XP_011535370.1:p.Gly710Asp | |
| XM_011537069.1:c.2099G>A | XP_011535371.1:p.Gly700Asp | |
| XM_011537070.1:c.2042G>A | XP_011535372.1:p.Gly681Asp | |
| XM_011537071.1:c.2009G>A | XP_011535373.1:p.Gly670Asp | |
| XM_011537072.1:c.1988G>A | XP_011535374.1:p.Gly663Asp | |
| XM_011537073.1:c.1781G>A | XP_011535375.1:p.Gly594Asp | |
| XM_011537074.1:c.1781G>A | XP_011535376.1:p.Gly594Asp | |
| XM_005267991.3:c.2195G>A | XP_005268048.2:p.Gly732Asp | |
| XM_005267992.3:c.2189G>A | XP_005268049.2:p.Gly730Asp | |
| XM_011537067.2:c.2138G>A | XP_011535369.1:p.Gly713Asp | |
| XM_011537069.2:c.2186G>A | XP_011535371.2:p.Gly729Asp | |
| XM_011537070.2:c.2042G>A | XP_011535372.1:p.Gly681Asp | |
| XM_011537071.2:c.2096G>A | XP_011535373.2:p.Gly699Asp | |
| XM_011537072.2:c.1988G>A | XP_011535374.1:p.Gly663Asp | |
| XM_017021582.1:c.2246G>A | XP_016877071.1:p.Gly749Asp | |
| XM_017021583.1:c.2237G>A | XP_016877072.1:p.Gly746Asp | |
| XM_017021584.1:c.2156G>A | XP_016877073.1:p.Gly719Asp | |
| XM_017021585.1:c.2105G>A | XP_016877074.1:p.Gly702Asp | |
| XM_017021586.1:c.1781G>A | XP_016877075.1:p.Gly594Asp | |
| XM_017021587.1:c.1781G>A | XP_016877076.1:p.Gly594Asp | |
| XM_017021588.1:c.1781G>A | XP_016877077.1:p.Gly594Asp | |
| NM_001164749.2:c.2087G>A MANE Select | NP_001158221.1:p.Gly696Asp | |
| NM_001165893.2:c.1997G>A | NP_001159365.1:p.Gly666Asp | |
| NM_022123.3:c.1991G>A | NP_071406.1:p.Gly664Asp | |
| NM_173159.3:c.2048G>A | NP_775182.1:p.Gly683Asp | |
| NM_001394988.1:c.2042G>A | NP_001381917.1:p.Gly681Asp | |
| NM_001394989.1:c.1988G>A | NP_001381918.1:p.Gly663Asp |