Linked Data
dbSNP Id:
rs1466209850
gnomAD v2:
2-25047329-C-T
gnomAD v3:
2-24824460-C-T
gnomAD v4:
2-24824460-C-T
COSMIC:
COSM442667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24824460C>T , CM000664.2:g.24824460C>T | GRCh38 |
| NC_000002.11:g.25047329C>T , CM000664.1:g.25047329C>T | GRCh37 |
| NC_000002.10:g.24900833C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.2657G>A | ENSP00000384484.2:p.Arg886Gln | |
| ENST00000679454.1:c.2654G>A MANE Select | ENSP00000505261.1:p.Arg885Gln | |
| ENST00000260600.9:c.2654G>A | ENSP00000260600.5:p.Arg885Gln | |
| ENST00000405392.5:c.2657G>A | ENSP00000384484.2:p.Arg886Gln | |
| ENST00000606682.5:c.1595G>A | ENSP00000475652.1:p.Arg532Gln | |
| NM_004036.3:c.2654G>A | NP_004027.2:p.Arg885Gln | |
| XM_005264104.1:c.2657G>A | XP_005264161.1:p.Arg886Gln | |
| XM_005264105.1:c.2654G>A | XP_005264162.1:p.Arg885Gln | |
| XM_006711925.1:c.2723G>A | XP_006711988.1:p.Arg908Gln | |
| XM_011532489.1:c.2780G>A | XP_011530791.1:p.Arg927Gln | |
| XM_011532490.1:c.2777G>A | XP_011530792.1:p.Arg926Gln | |
| XM_011532491.1:c.2714G>A | XP_011530793.1:p.Arg905Gln | |
| XM_011532492.1:c.2780G>A | XP_011530794.1:p.Arg927Gln | |
| XM_011532493.1:c.2642G>A | XP_011530795.1:p.Arg881Gln | |
| XM_011532494.1:c.2582G>A | XP_011530796.1:p.Arg861Gln | |
| XM_011532495.1:c.2114G>A | XP_011530797.1:p.Arg705Gln | |
| XM_011532496.1:c.2057G>A | XP_011530798.1:p.Arg686Gln | |
| NM_001320613.1:c.2657G>A | NP_001307542.1:p.Arg886Gln | |
| NM_004036.4:c.2654G>A | NP_004027.2:p.Arg885Gln | |
| XM_011532492.2:c.2780G>A | XP_011530794.1:p.Arg927Gln | |
| XM_017003186.1:c.2720G>A | XP_016858675.1:p.Arg907Gln | |
| XM_017003187.1:c.2711G>A | XP_016858676.1:p.Arg904Gln | |
| XM_017003188.1:c.2777G>A | XP_016858677.1:p.Arg926Gln | |
| XM_017003189.1:c.2639G>A | XP_016858678.1:p.Arg880Gln | |
| XM_017003190.1:c.2516G>A | XP_016858679.1:p.Arg839Gln | |
| XM_017003191.1:c.2144G>A | XP_016858680.1:p.Arg715Gln | |
| XM_017003192.1:c.1934G>A | XP_016858681.1:p.Arg645Gln | |
| XM_017003193.1:c.1931G>A | XP_016858682.1:p.Arg644Gln | |
| NM_001320613.2:c.2657G>A | NP_001307542.1:p.Arg886Gln | |
| NM_001377128.1:c.2720G>A | NP_001364057.1:p.Arg907Gln | |
| NM_001377129.1:c.2516G>A | NP_001364058.1:p.Arg839Gln | |
| NM_001377130.1:c.2249G>A | NP_001364059.1:p.Arg750Gln | |
| NM_001377131.1:c.1931G>A | NP_001364060.1:p.Arg644Gln | |
| NM_001377132.1:c.2654G>A | NP_001364061.1:p.Arg885Gln | |
| NM_004036.5:c.2654G>A MANE Select | NP_004027.2:p.Arg885Gln |