Linked Data
ClinVar Variation Id:
1502661
ClinVar RCV Id:
RCV002011045
dbSNP Id:
rs1564543743
gnomAD v4:
10-71362604-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362604T>C , CM000672.2:g.71362604T>C | GRCh38 |
| NC_000010.10:g.73122361T>C , CM000672.1:g.73122361T>C | GRCh37 |
| NC_000010.9:g.72792367T>C | NCBI36 |
| NG_017066.1:g.48352T>C | |
| NG_017066.2:g.48346T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2900T>C | ||
| ENST00000373189.6:c.1424T>C MANE Select | ENSP00000362285.5:p.Ile475Thr | |
| ENST00000479577.2:c.1190T>C | ENSP00000493995.1:p.Ile397Thr | |
| ENST00000642198.1:c.*996T>C | ENSP00000494827.1:n.*996T>C | |
| ENST00000642772.1:c.*94+6361T>C | ENSP00000495041.1:n.*94+6361T>C | |
| ENST00000643042.1:c.1045T>C | ENSP00000496674.1:n.1045T>C | |
| ENST00000643619.1:c.*1007T>C | ENSP00000494378.1:n.*1007T>C | |
| ENST00000643752.1:c.*750T>C | ENSP00000495000.1:n.*750T>C | |
| ENST00000644088.1:c.*745T>C | ENSP00000494066.1:n.*745T>C | |
| ENST00000644591.1:c.*750T>C | ENSP00000496664.1:n.*750T>C | |
| ENST00000644895.1:c.*99+6361T>C | ENSP00000493872.1:n.*99+6361T>C | |
| ENST00000645345.1:c.*996T>C | ENSP00000495859.1:n.*996T>C | |
| ENST00000647524.1:c.*1007T>C | ENSP00000495077.1:n.*1007T>C | |
| ENST00000373189.5:c.1424T>C | ENSP00000362285.5:p.Ile475Thr | |
| NM_001174098.1:c.*653T>C | NP_001167569.1:n.*653T>C | |
| NM_018344.5:c.1424T>C | NP_060814.4:p.Ile475Thr | |
| NR_033413.1:n.1398T>C | ||
| NR_033414.1:n.1171T>C | ||
| XM_006717910.2:c.1190T>C | XP_006717973.1:p.Ile397Thr | |
| NM_001363518.1:c.1190T>C | NP_001350447.1:p.Ile397Thr | |
| XM_017016377.2:c.986T>C | XP_016871866.1:p.Ile329Thr | |
| XM_017016378.2:c.806T>C | XP_016871867.1:p.Ile269Thr | |
| NM_018344.6:c.1424T>C MANE Select | NP_060814.4:p.Ile475Thr | |
| NM_001174098.2:c.*653T>C | NP_001167569.1:n.*653T>C | |
| NM_001363518.2:c.1190T>C | NP_001350447.1:p.Ile397Thr | |
| NR_033413.2:n.1392T>C | ||
| NR_033414.2:n.1165T>C |