Linked Data
dbSNP Id:
rs1302017859
gnomAD v2:
14-34269785-A-C
gnomAD v3:
14-33800579-A-C
gnomAD v4:
14-33800579-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800579A>C , CM000676.2:g.33800579A>C | GRCh38 |
| NC_000014.8:g.34269785A>C , CM000676.1:g.34269785A>C | GRCh37 |
| NC_000014.7:g.33339536A>C | NCBI36 |
| NG_013036.1:g.866327A>C | |
| NG_013036.2:g.866327A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356141.9:c.2272A>C MANE Select | ENSP00000348460.4:p.Lys758Gln | |
| ENST00000551634.6:c.2281A>C | ENSP00000448373.2:p.Lys761Gln | |
| ENST00000680362.1:c.2172A>C | ||
| ENST00000681323.1:c.793+2998A>C | ||
| ENST00000346562.6:c.2176A>C | ENSP00000319610.5:p.Lys726Gln | |
| ENST00000356141.8:c.2272A>C | ENSP00000348460.4:p.Lys758Gln | |
| ENST00000357798.9:c.2233A>C | ENSP00000350446.5:p.Lys745Gln | |
| ENST00000548645.5:c.2182A>C | ENSP00000448916.1:p.Lys728Gln | |
| ENST00000551492.5:c.2287A>C | ENSP00000450392.1:p.Lys763Gln | |
| ENST00000551634.5:c.2194A>C | ENSP00000448373.1:p.Lys732Gln | |
| NM_001164749.1:c.2272A>C | NP_001158221.1:p.Lys758Gln | |
| NM_001165893.1:c.2182A>C | NP_001159365.1:p.Lys728Gln | |
| NM_022123.2:c.2176A>C | NP_071406.1:p.Lys726Gln | |
| NM_173159.2:c.2233A>C | NP_775182.1:p.Lys745Gln | |
| XM_005267991.2:c.2293A>C | XP_005268048.1:p.Lys765Gln | |
| XM_005267992.2:c.2287A>C | XP_005268049.1:p.Lys763Gln | |
| XM_005267993.2:c.2233A>C | XP_005268050.1:p.Lys745Gln | |
| XM_011537067.1:c.2323A>C | XP_011535369.1:p.Lys775Gln | |
| XM_011537068.1:c.2314A>C | XP_011535370.1:p.Lys772Gln | |
| XM_011537069.1:c.2284A>C | XP_011535371.1:p.Lys762Gln | |
| XM_011537070.1:c.2227A>C | XP_011535372.1:p.Lys743Gln | |
| XM_011537071.1:c.2194A>C | XP_011535373.1:p.Lys732Gln | |
| XM_011537072.1:c.2173A>C | XP_011535374.1:p.Lys725Gln | |
| XM_011537073.1:c.1966A>C | XP_011535375.1:p.Lys656Gln | |
| XM_011537074.1:c.1966A>C | XP_011535376.1:p.Lys656Gln | |
| XM_005267991.3:c.2380A>C | XP_005268048.2:p.Lys794Gln | |
| XM_005267992.3:c.2374A>C | XP_005268049.2:p.Lys792Gln | |
| XM_011537067.2:c.2323A>C | XP_011535369.1:p.Lys775Gln | |
| XM_011537069.2:c.2371A>C | XP_011535371.2:p.Lys791Gln | |
| XM_011537070.2:c.2227A>C | XP_011535372.1:p.Lys743Gln | |
| XM_011537071.2:c.2281A>C | XP_011535373.2:p.Lys761Gln | |
| XM_011537072.2:c.2173A>C | XP_011535374.1:p.Lys725Gln | |
| XM_017021582.1:c.2431A>C | XP_016877071.1:p.Lys811Gln | |
| XM_017021583.1:c.2422A>C | XP_016877072.1:p.Lys808Gln | |
| XM_017021584.1:c.2341A>C | XP_016877073.1:p.Lys781Gln | |
| XM_017021585.1:c.2290A>C | XP_016877074.1:p.Lys764Gln | |
| XM_017021586.1:c.1966A>C | XP_016877075.1:p.Lys656Gln | |
| XM_017021587.1:c.1966A>C | XP_016877076.1:p.Lys656Gln | |
| XM_017021588.1:c.1966A>C | XP_016877077.1:p.Lys656Gln | |
| NM_001164749.2:c.2272A>C MANE Select | NP_001158221.1:p.Lys758Gln | |
| NM_001165893.2:c.2182A>C | NP_001159365.1:p.Lys728Gln | |
| NM_022123.3:c.2176A>C | NP_071406.1:p.Lys726Gln | |
| NM_173159.3:c.2233A>C | NP_775182.1:p.Lys745Gln | |
| NM_001394988.1:c.2227A>C | NP_001381917.1:p.Lys743Gln | |
| NM_001394989.1:c.2173A>C | NP_001381918.1:p.Lys725Gln |