Linked Data
dbSNP Id:
rs749959260
ExAC:
2:25046099 T / C
gnomAD v2:
2-25046099-T-C
gnomAD v4:
2-24823230-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24823230T>C , CM000664.2:g.24823230T>C | GRCh38 |
| NC_000002.11:g.25046099T>C , CM000664.1:g.25046099T>C | GRCh37 |
| NC_000002.10:g.24899603T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405392.6:c.2865A>G | ENSP00000384484.2:p.Glu955= | |
| ENST00000679454.1:c.2862A>G MANE Select | ENSP00000505261.1:p.Glu954= | |
| ENST00000260600.9:c.2862A>G | ENSP00000260600.5:p.Glu954= | |
| ENST00000405392.5:c.2865A>G | ENSP00000384484.2:p.Glu955= | |
| ENST00000485887.1:n.134A>G | ||
| ENST00000606682.5:c.1803A>G | ENSP00000475652.1:p.Glu601= | |
| NM_004036.3:c.2862A>G | NP_004027.2:p.Glu954= | |
| XM_005264104.1:c.2865A>G | XP_005264161.1:p.Glu955= | |
| XM_005264105.1:c.2862A>G | XP_005264162.1:p.Glu954= | |
| XM_006711925.1:c.2931A>G | XP_006711988.1:p.Glu977= | |
| XM_011532489.1:c.2988A>G | XP_011530791.1:p.Glu996= | |
| XM_011532490.1:c.2985A>G | XP_011530792.1:p.Glu995= | |
| XM_011532491.1:c.2922A>G | XP_011530793.1:p.Glu974= | |
| XM_011532492.1:c.2988A>G | XP_011530794.1:p.Glu996= | |
| XM_011532493.1:c.2850A>G | XP_011530795.1:p.Glu950= | |
| XM_011532494.1:c.2790A>G | XP_011530796.1:p.Glu930= | |
| XM_011532495.1:c.2322A>G | XP_011530797.1:p.Glu774= | |
| XM_011532496.1:c.2265A>G | XP_011530798.1:p.Glu755= | |
| NM_001320613.1:c.2865A>G | NP_001307542.1:p.Glu955= | |
| NM_004036.4:c.2862A>G | NP_004027.2:p.Glu954= | |
| XM_011532492.2:c.2988A>G | XP_011530794.1:p.Glu996= | |
| XM_017003186.1:c.2928A>G | XP_016858675.1:p.Glu976= | |
| XM_017003187.1:c.2919A>G | XP_016858676.1:p.Glu973= | |
| XM_017003188.1:c.2985A>G | XP_016858677.1:p.Glu995= | |
| XM_017003189.1:c.2847A>G | XP_016858678.1:p.Glu949= | |
| XM_017003190.1:c.2724A>G | XP_016858679.1:p.Glu908= | |
| XM_017003191.1:c.2352A>G | XP_016858680.1:p.Glu784= | |
| XM_017003192.1:c.2142A>G | XP_016858681.1:p.Glu714= | |
| XM_017003193.1:c.2139A>G | XP_016858682.1:p.Glu713= | |
| NM_001320613.2:c.2865A>G | NP_001307542.1:p.Glu955= | |
| NM_001377128.1:c.2928A>G | NP_001364057.1:p.Glu976= | |
| NM_001377129.1:c.2724A>G | NP_001364058.1:p.Glu908= | |
| NM_001377130.1:c.2332-600A>G | NP_001364059.1:n.2332-600A>G | |
| NM_001377131.1:c.2139A>G | NP_001364060.1:p.Glu713= | |
| NM_001377132.1:c.2862A>G | NP_001364061.1:p.Glu954= | |
| NM_004036.5:c.2862A>G MANE Select | NP_004027.2:p.Glu954= |