Linked Data
ClinVar Variation Id:
11529
dbSNP Id:
rs80338714
ExAC:
X:2852900 C / T
gnomAD v2:
X-2852900-C-T
gnomAD v3:
X-2934859-C-T
gnomAD v4:
X-2934859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2934859C>T , CM000685.2:g.2934859C>T | GRCh38 |
| NC_000023.10:g.2852900C>T , CM000685.1:g.2852900C>T | GRCh37 |
| NC_000023.9:g.2862900C>T | NCBI36 |
| NG_007091.1:g.34412G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540563.6:c.1743G>A | ENSP00000438198.2:p.Trp581Ter | |
| ENST00000681963.1:c.1818G>A | ENSP00000507760.1:p.Trp606Ter | |
| ENST00000682184.1:c.1620G>A | ENSP00000507043.1:p.Trp540Ter | |
| ENST00000682364.1:c.1182G>A | ENSP00000507604.1:p.Trp394Ter | |
| ENST00000683191.1:n.1523G>A | ||
| ENST00000683290.1:c.1818G>A | ENSP00000508156.1:p.Trp606Ter | |
| ENST00000683677.1:c.1731G>A | ENSP00000506786.1:p.Trp577Ter | |
| ENST00000684077.1:c.1296G>A | ENSP00000506767.1:p.Trp432Ter | |
| ENST00000684117.1:c.1581G>A | ENSP00000508337.1:p.Trp527Ter | |
| ENST00000684364.1:c.1731G>A | ENSP00000507304.1:p.Trp577Ter | |
| ENST00000684738.1:c.1182G>A | ENSP00000507481.1:p.Trp394Ter | |
| ENST00000381134.9:c.1743G>A MANE Select | ENSP00000370526.3:p.Trp581Ter | |
| ENST00000545496.6:c.1818G>A | ENSP00000441417.1:p.Trp606Ter | |
| ENST00000672027.1:c.1818G>A | ENSP00000500220.1:p.Trp606Ter | |
| ENST00000672097.1:c.1740G>A | ENSP00000500727.1:p.Trp580Ter | |
| ENST00000672761.1:c.1581G>A | ENSP00000500108.1:p.Trp527Ter | |
| ENST00000673032.1:c.1581G>A | ENSP00000500778.1:p.Trp527Ter | |
| ENST00000381134.7:c.1743G>A | ENSP00000370526.3:p.Trp581Ter | |
| ENST00000540563.5:c.1608G>A | ENSP00000438198.1:p.Trp536Ter | |
| ENST00000545496.5:c.1818G>A | ENSP00000441417.1:p.Trp606Ter | |
| NM_000047.2:c.1743G>A | NP_000038.2:p.Trp581Ter | |
| NM_001282628.1:c.1818G>A | NP_001269557.1:p.Trp606Ter | |
| NM_001282631.1:c.1608G>A | NP_001269560.1:p.Trp536Ter | |
| XM_005274518.2:c.1770G>A | XP_005274575.1:p.Trp590Ter | |
| XM_005274519.3:c.1743G>A | XP_005274576.1:p.Trp581Ter | |
| XM_005274521.3:c.1581G>A | XP_005274578.1:p.Trp527Ter | |
| XM_011545519.1:c.1581G>A | XP_011543821.1:p.Trp527Ter | |
| XM_011545520.1:c.1257G>A | XP_011543822.1:p.Trp419Ter | |
| XM_011545521.1:c.1182G>A | XP_011543823.1:p.Trp394Ter | |
| XM_005274519.4:c.1743G>A | XP_005274576.1:p.Trp581Ter | |
| XM_005274521.4:c.1581G>A | XP_005274578.1:p.Trp527Ter | |
| XM_017029525.1:c.1818G>A | XP_016885014.1:p.Trp606Ter | |
| XM_017029526.1:c.1257G>A | XP_016885015.1:p.Trp419Ter | |
| NM_000047.3:c.1743G>A MANE Select | NP_000038.2:p.Trp581Ter | |
| NM_001282631.2:c.1581G>A | NP_001269560.2:p.Trp527Ter | |
| NM_001369079.1:c.1770G>A | NP_001356008.1:p.Trp590Ter | |
| NM_001369080.1:c.1818G>A | NP_001356009.1:p.Trp606Ter | |
| NM_001282628.2:c.1818G>A | NP_001269557.1:p.Trp606Ter |