Linked Data
dbSNP Id:
rs1158250998
gnomAD v2:
14-34269688-C-G
gnomAD v3:
14-33800482-C-G
gnomAD v4:
14-33800482-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800482C>G , CM000676.2:g.33800482C>G | GRCh38 |
| NC_000014.8:g.34269688C>G , CM000676.1:g.34269688C>G | GRCh37 |
| NC_000014.7:g.33339439C>G | NCBI36 |
| NG_013036.1:g.866230C>G | |
| NG_013036.2:g.866230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2175C>G MANE Select | ENSP00000348460.4:p.Ala725= | |
| ENST00000551634.6:c.2184C>G | ENSP00000448373.2:p.Ala728= | |
| ENST00000680362.1:c.2075C>G | ||
| ENST00000681323.1:c.793+2901C>G | ||
| ENST00000346562.6:c.2079C>G | ENSP00000319610.5:p.Ala693= | |
| ENST00000356141.8:c.2175C>G | ENSP00000348460.4:p.Ala725= | |
| ENST00000357798.9:c.2136C>G | ENSP00000350446.5:p.Ala712= | |
| ENST00000548645.5:c.2085C>G | ENSP00000448916.1:p.Ala695= | |
| ENST00000551492.5:c.2190C>G | ENSP00000450392.1:p.Ala730= | |
| ENST00000551634.5:c.2097C>G | ENSP00000448373.1:p.Ala699= | |
| NM_001164749.1:c.2175C>G | NP_001158221.1:p.Ala725= | |
| NM_001165893.1:c.2085C>G | NP_001159365.1:p.Ala695= | |
| NM_022123.2:c.2079C>G | NP_071406.1:p.Ala693= | |
| NM_173159.2:c.2136C>G | NP_775182.1:p.Ala712= | |
| XM_005267991.2:c.2196C>G | XP_005268048.1:p.Ala732= | |
| XM_005267992.2:c.2190C>G | XP_005268049.1:p.Ala730= | |
| XM_005267993.2:c.2136C>G | XP_005268050.1:p.Ala712= | |
| XM_011537067.1:c.2226C>G | XP_011535369.1:p.Ala742= | |
| XM_011537068.1:c.2217C>G | XP_011535370.1:p.Ala739= | |
| XM_011537069.1:c.2187C>G | XP_011535371.1:p.Ala729= | |
| XM_011537070.1:c.2130C>G | XP_011535372.1:p.Ala710= | |
| XM_011537071.1:c.2097C>G | XP_011535373.1:p.Ala699= | |
| XM_011537072.1:c.2076C>G | XP_011535374.1:p.Ala692= | |
| XM_011537073.1:c.1869C>G | XP_011535375.1:p.Ala623= | |
| XM_011537074.1:c.1869C>G | XP_011535376.1:p.Ala623= | |
| XM_005267991.3:c.2283C>G | XP_005268048.2:p.Ala761= | |
| XM_005267992.3:c.2277C>G | XP_005268049.2:p.Ala759= | |
| XM_011537067.2:c.2226C>G | XP_011535369.1:p.Ala742= | |
| XM_011537069.2:c.2274C>G | XP_011535371.2:p.Ala758= | |
| XM_011537070.2:c.2130C>G | XP_011535372.1:p.Ala710= | |
| XM_011537071.2:c.2184C>G | XP_011535373.2:p.Ala728= | |
| XM_011537072.2:c.2076C>G | XP_011535374.1:p.Ala692= | |
| XM_017021582.1:c.2334C>G | XP_016877071.1:p.Ala778= | |
| XM_017021583.1:c.2325C>G | XP_016877072.1:p.Ala775= | |
| XM_017021584.1:c.2244C>G | XP_016877073.1:p.Ala748= | |
| XM_017021585.1:c.2193C>G | XP_016877074.1:p.Ala731= | |
| XM_017021586.1:c.1869C>G | XP_016877075.1:p.Ala623= | |
| XM_017021587.1:c.1869C>G | XP_016877076.1:p.Ala623= | |
| XM_017021588.1:c.1869C>G | XP_016877077.1:p.Ala623= | |
| NM_001164749.2:c.2175C>G MANE Select | NP_001158221.1:p.Ala725= | |
| NM_001165893.2:c.2085C>G | NP_001159365.1:p.Ala695= | |
| NM_022123.3:c.2079C>G | NP_071406.1:p.Ala693= | |
| NM_173159.3:c.2136C>G | NP_775182.1:p.Ala712= | |
| NM_001394988.1:c.2130C>G | NP_001381917.1:p.Ala710= | |
| NM_001394989.1:c.2076C>G | NP_001381918.1:p.Ala692= |