Linked Data
dbSNP Id:
rs748494944
ExAC:
2:25047334 C / T
gnomAD v2:
2-25047334-C-T
gnomAD v4:
2-24824465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24824465C>T , CM000664.2:g.24824465C>T | GRCh38 |
| NC_000002.11:g.25047334C>T , CM000664.1:g.25047334C>T | GRCh37 |
| NC_000002.10:g.24900838C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.2652G>A | ENSP00000384484.2:p.Glu884= | |
| ENST00000679454.1:c.2649G>A MANE Select | ENSP00000505261.1:p.Glu883= | |
| ENST00000260600.9:c.2649G>A | ENSP00000260600.5:p.Glu883= | |
| ENST00000405392.5:c.2652G>A | ENSP00000384484.2:p.Glu884= | |
| ENST00000606682.5:c.1590G>A | ENSP00000475652.1:p.Glu530= | |
| NM_004036.3:c.2649G>A | NP_004027.2:p.Glu883= | |
| XM_005264104.1:c.2652G>A | XP_005264161.1:p.Glu884= | |
| XM_005264105.1:c.2649G>A | XP_005264162.1:p.Glu883= | |
| XM_006711925.1:c.2718G>A | XP_006711988.1:p.Glu906= | |
| XM_011532489.1:c.2775G>A | XP_011530791.1:p.Glu925= | |
| XM_011532490.1:c.2772G>A | XP_011530792.1:p.Glu924= | |
| XM_011532491.1:c.2709G>A | XP_011530793.1:p.Glu903= | |
| XM_011532492.1:c.2775G>A | XP_011530794.1:p.Glu925= | |
| XM_011532493.1:c.2637G>A | XP_011530795.1:p.Glu879= | |
| XM_011532494.1:c.2577G>A | XP_011530796.1:p.Glu859= | |
| XM_011532495.1:c.2109G>A | XP_011530797.1:p.Glu703= | |
| XM_011532496.1:c.2052G>A | XP_011530798.1:p.Glu684= | |
| NM_001320613.1:c.2652G>A | NP_001307542.1:p.Glu884= | |
| NM_004036.4:c.2649G>A | NP_004027.2:p.Glu883= | |
| XM_011532492.2:c.2775G>A | XP_011530794.1:p.Glu925= | |
| XM_017003186.1:c.2715G>A | XP_016858675.1:p.Glu905= | |
| XM_017003187.1:c.2706G>A | XP_016858676.1:p.Glu902= | |
| XM_017003188.1:c.2772G>A | XP_016858677.1:p.Glu924= | |
| XM_017003189.1:c.2634G>A | XP_016858678.1:p.Glu878= | |
| XM_017003190.1:c.2511G>A | XP_016858679.1:p.Glu837= | |
| XM_017003191.1:c.2139G>A | XP_016858680.1:p.Glu713= | |
| XM_017003192.1:c.1929G>A | XP_016858681.1:p.Glu643= | |
| XM_017003193.1:c.1926G>A | XP_016858682.1:p.Glu642= | |
| NM_001320613.2:c.2652G>A | NP_001307542.1:p.Glu884= | |
| NM_001377128.1:c.2715G>A | NP_001364057.1:p.Glu905= | |
| NM_001377129.1:c.2511G>A | NP_001364058.1:p.Glu837= | |
| NM_001377130.1:c.2244G>A | NP_001364059.1:p.Glu748= | |
| NM_001377131.1:c.1926G>A | NP_001364060.1:p.Glu642= | |
| NM_001377132.1:c.2649G>A | NP_001364061.1:p.Glu883= | |
| NM_004036.5:c.2649G>A MANE Select | NP_004027.2:p.Glu883= |