Linked Data
ClinVar Variation Id:
219116
dbSNP Id:
rs864321629
gnomAD v4:
X-71398627-C-T
PubMed:
PMID:26637982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71398627C>T , CM000685.2:g.71398627C>T | GRCh38 |
| NC_000023.10:g.70618477C>T , CM000685.1:g.70618477C>T | GRCh37 |
| NC_000023.9:g.70535202C>T | NCBI36 |
| NG_012771.2:g.37364C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276072.9:c.2962C>T | ENSP00000276072.5:p.Arg988Trp | |
| ENST00000483985.3:c.591C>T | ||
| ENST00000683202.1:c.3676C>T | ENSP00000507781.1:p.Arg1226Trp | |
| ENST00000683668.1:c.2962C>T | ENSP00000507280.1:p.Arg988Trp | |
| ENST00000683782.1:c.3676C>T | ENSP00000506996.1:p.Arg1226Trp | |
| ENST00000276072.8:c.270C>T | ||
| ENST00000373790.9:c.3613C>T | ENSP00000362895.5:p.Arg1205Trp | |
| ENST00000423759.6:c.3676C>T MANE Select | ENSP00000406549.2:p.Arg1226Trp | |
| ENST00000276072.7:c.3736C>T | ENSP00000276072.3:p.Arg1246Trp | |
| ENST00000373790.8:c.3673C>T | ENSP00000362895.4:p.Arg1225Trp | |
| ENST00000423759.5:c.3736C>T | ENSP00000406549.1:p.Arg1246Trp | |
| ENST00000483985.2:c.405C>T | ||
| NM_001286074.1:c.3736C>T | NP_001273003.1:p.Arg1246Trp | |
| NM_004606.4:c.3736C>T | NP_004597.2:p.Arg1246Trp | |
| NM_138923.3:c.3673C>T | NP_620278.1:p.Arg1225Trp | |
| NR_104387.1:n.3812C>T | ||
| NR_104388.1:n.3812C>T | ||
| NR_104389.1:n.3812C>T | ||
| NR_104390.1:n.3812C>T | ||
| NR_104391.1:n.3812C>T | ||
| NR_104392.1:n.3812C>T | ||
| NR_104393.1:n.3812C>T | ||
| NR_104394.1:n.3812C>T | ||
| NR_104395.1:n.3812C>T | ||
| XM_005262295.1:c.3736C>T | XP_005262352.1:p.Arg1246Trp | |
| XM_005262296.1:c.3733C>T | XP_005262353.1:p.Arg1245Trp | |
| XM_005262297.3:c.3673C>T | XP_005262354.1:p.Arg1225Trp | |
| XM_006724682.2:c.3355C>T | XP_006724745.1:p.Arg1119Trp | |
| XM_011531016.1:c.3736C>T | XP_011529318.1:p.Arg1246Trp | |
| XR_938407.1:n.3746C>T | ||
| XM_005262297.4:c.3673C>T | XP_005262354.1:p.Arg1225Trp | |
| XM_024452429.1:c.3355C>T | XP_024308197.1:p.Arg1119Trp | |
| XM_024452430.1:c.3736C>T | XP_024308198.1:p.Arg1246Trp | |
| NM_001286074.2:c.3676C>T | NP_001273003.2:p.Arg1226Trp | |
| NM_004606.5:c.3676C>T MANE Select | NP_004597.3:p.Arg1226Trp | |
| NM_138923.4:c.3613C>T | NP_620278.2:p.Arg1205Trp | |
| NR_104387.2:n.3694C>T | ||
| NR_104388.2:n.3694C>T | ||
| NR_104389.2:n.3694C>T | ||
| NR_104390.2:n.3694C>T | ||
| NR_104391.2:n.3694C>T | ||
| NR_104392.2:n.3694C>T | ||
| NR_104393.2:n.3694C>T | ||
| NR_104394.2:n.3694C>T | ||
| NR_104395.2:n.3694C>T |