Linked Data
ClinVar Variation Id:
461696
dbSNP Id:
rs782137551
ExAC:
X:149828944 C / T
gnomAD v2:
X-149828944-C-T
gnomAD v3:
X-150660471-C-T
gnomAD v4:
X-150660471-C-T
ERepo:
CA10539261/MONDO:0018947/149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150660471C>T , CM000685.2:g.150660471C>T | GRCh38 |
| NC_000023.10:g.149828944C>T , CM000685.1:g.149828944C>T | GRCh37 |
| NC_000023.9:g.149579602C>T | NCBI36 |
| NG_008199.1:g.96898C>T , LRG_839:g.96898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*987C>T | ENSP00000509844.1:n.*987C>T | |
| ENST00000685439.1:c.1109C>T | ENSP00000508454.1:p.Ala370Val | |
| ENST00000685944.1:c.1454C>T | ENSP00000509266.1:p.Ala485Val | |
| ENST00000686212.1:n.1056C>T | ||
| ENST00000687215.1:c.*1209C>T | ENSP00000509706.1:n.*1209C>T | |
| ENST00000688152.1:c.*898C>T | ENSP00000509360.1:n.*898C>T | |
| ENST00000688403.1:c.710C>T | ENSP00000508944.1:p.Ala237Val | |
| ENST00000689314.1:c.1499C>T | ENSP00000510607.1:p.Ala500Val | |
| ENST00000689694.1:c.1454C>T | ENSP00000508718.1:p.Ala485Val | |
| ENST00000689810.1:c.*1103C>T | ENSP00000510635.1:n.*1103C>T | |
| ENST00000690282.1:c.710C>T | ENSP00000509809.1:p.Ala237Val | |
| ENST00000690351.1:c.*1106C>T | ENSP00000509728.1:n.*1106C>T | |
| ENST00000691232.1:c.1109C>T | ENSP00000509675.1:p.Ala370Val | |
| ENST00000691482.1:n.2469C>T | ||
| ENST00000691686.1:c.1361C>T | ENSP00000509784.1:p.Ala454Val | |
| ENST00000691851.1:c.1053+10570C>T | ENSP00000510106.1:n.1053+10570C>T | |
| ENST00000692015.1:c.1241C>T | ENSP00000510634.1:p.Ala414Val | |
| ENST00000692638.1:c.*1252C>T | ENSP00000509412.1:n.*1252C>T | |
| ENST00000692852.1:c.1265C>T | ENSP00000510337.1:p.Ala422Val | |
| ENST00000692915.1:c.*1600C>T | ENSP00000508547.1:n.*1600C>T | |
| ENST00000370396.7:c.1454C>T MANE Select | ENSP00000359423.3:p.Ala485Val | |
| ENST00000306167.11:n.1321C>T | ||
| ENST00000370396.6:c.1454C>T | ENSP00000359423.2:p.Ala485Val | |
| NM_000252.2:c.1454C>T , LRG_839t1:c.1454C>T | NP_000243.1:p.Ala485Val | |
| XM_005274687.2:c.1454C>T | XP_005274744.1:p.Ala485Val | |
| XM_011531170.1:c.1520C>T | XP_011529472.1:p.Ala507Val | |
| XM_011531171.1:c.1499C>T | XP_011529473.1:p.Ala500Val | |
| XM_011531172.1:c.1499C>T | XP_011529474.1:p.Ala500Val | |
| XM_011531173.1:c.1454C>T | XP_011529475.1:p.Ala485Val | |
| XM_011531173.2:c.1454C>T | XP_011529475.1:p.Ala485Val | |
| XM_017029547.1:c.1499C>T | XP_016885036.1:p.Ala500Val | |
| XM_017029548.1:c.1499C>T | XP_016885037.1:p.Ala500Val | |
| XM_017029549.1:c.1454C>T | XP_016885038.1:p.Ala485Val | |
| XM_017029550.1:c.1343C>T | XP_016885039.1:p.Ala448Val | |
| XM_017029551.2:c.710C>T | XP_016885040.1:p.Ala237Val | |
| NM_000252.3:c.1454C>T MANE Select | NP_000243.1:p.Ala485Val | |
| NM_001376906.1:c.1454C>T | NP_001363835.1:p.Ala485Val | |
| NM_001376907.1:c.1343C>T | NP_001363836.1:p.Ala448Val | |
| NM_001376908.1:c.1454C>T | NP_001363837.1:p.Ala485Val |