Linked Data
ClinVar Variation Id:
1472786
ClinVar RCV Id:
RCV001969375
dbSNP Id:
rs150719927
ExAC:
10:73121826 C / T
gnomAD v2:
10-73121826-C-T
gnomAD v3:
10-71362069-C-T
gnomAD v4:
10-71362069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362069C>T , CM000672.2:g.71362069C>T | GRCh38 |
| NC_000010.10:g.73121826C>T , CM000672.1:g.73121826C>T | GRCh37 |
| NC_000010.9:g.72791832C>T | NCBI36 |
| NG_017066.1:g.47817C>T | |
| NG_017066.2:g.47811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2365C>T | ||
| ENST00000373189.6:c.889C>T MANE Select | ENSP00000362285.5:p.Pro297Ser | |
| ENST00000479577.2:c.655C>T | ENSP00000493995.1:p.Pro219Ser | |
| ENST00000642198.1:c.*461C>T | ENSP00000494827.1:n.*461C>T | |
| ENST00000642772.1:c.*94+5826C>T | ENSP00000495041.1:n.*94+5826C>T | |
| ENST00000643042.1:c.510C>T | ENSP00000496674.1:n.510C>T | |
| ENST00000643619.1:c.*472C>T | ENSP00000494378.1:n.*472C>T | |
| ENST00000643752.1:c.*215C>T | ENSP00000495000.1:n.*215C>T | |
| ENST00000644088.1:c.*210C>T | ENSP00000494066.1:n.*210C>T | |
| ENST00000644591.1:c.*215C>T | ENSP00000496664.1:n.*215C>T | |
| ENST00000644895.1:c.*99+5826C>T | ENSP00000493872.1:n.*99+5826C>T | |
| ENST00000645345.1:c.*461C>T | ENSP00000495859.1:n.*461C>T | |
| ENST00000647524.1:c.*472C>T | ENSP00000495077.1:n.*472C>T | |
| ENST00000373189.5:c.889C>T | ENSP00000362285.5:p.Pro297Ser | |
| ENST00000469204.1:n.386C>T | ||
| NM_001174098.1:c.*118C>T | NP_001167569.1:n.*118C>T | |
| NM_018344.5:c.889C>T | NP_060814.4:p.Pro297Ser | |
| NR_033413.1:n.863C>T | ||
| NR_033414.1:n.636C>T | ||
| XM_006717910.2:c.655C>T | XP_006717973.1:p.Pro219Ser | |
| NM_001363518.1:c.655C>T | NP_001350447.1:p.Pro219Ser | |
| XM_017016377.2:c.451C>T | XP_016871866.1:p.Pro151Ser | |
| XM_017016378.2:c.271C>T | XP_016871867.1:p.Pro91Ser | |
| NM_018344.6:c.889C>T MANE Select | NP_060814.4:p.Pro297Ser | |
| NM_001174098.2:c.*118C>T | NP_001167569.1:n.*118C>T | |
| NM_001363518.2:c.655C>T | NP_001350447.1:p.Pro219Ser | |
| NR_033413.2:n.857C>T | ||
| NR_033414.2:n.630C>T |