Linked Data
dbSNP Id:
rs1589244143
gnomAD v3:
10-71362065-A-C
gnomAD v4:
10-71362065-A-C
MyVariant Identifiers:
chr10:g.73121822A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362065A>C , CM000672.2:g.71362065A>C | GRCh38 |
| NC_000010.10:g.73121822A>C , CM000672.1:g.73121822A>C | GRCh37 |
| NC_000010.9:g.72791828A>C | NCBI36 |
| NG_017066.1:g.47813A>C | |
| NG_017066.2:g.47807A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2361A>C | ||
| ENST00000373189.6:c.885A>C MANE Select | ENSP00000362285.5:p.Thr295= | |
| ENST00000479577.2:c.651A>C | ENSP00000493995.1:p.Thr217= | |
| ENST00000642198.1:c.*457A>C | ENSP00000494827.1:n.*457A>C | |
| ENST00000642772.1:c.*94+5822A>C | ENSP00000495041.1:n.*94+5822A>C | |
| ENST00000643042.1:c.506A>C | ENSP00000496674.1:n.506A>C | |
| ENST00000643619.1:c.*468A>C | ENSP00000494378.1:n.*468A>C | |
| ENST00000643752.1:c.*211A>C | ENSP00000495000.1:n.*211A>C | |
| ENST00000644088.1:c.*206A>C | ENSP00000494066.1:n.*206A>C | |
| ENST00000644591.1:c.*211A>C | ENSP00000496664.1:n.*211A>C | |
| ENST00000644895.1:c.*99+5822A>C | ENSP00000493872.1:n.*99+5822A>C | |
| ENST00000645345.1:c.*457A>C | ENSP00000495859.1:n.*457A>C | |
| ENST00000647524.1:c.*468A>C | ENSP00000495077.1:n.*468A>C | |
| ENST00000373189.5:c.885A>C | ENSP00000362285.5:p.Thr295= | |
| ENST00000469204.1:n.382A>C | ||
| NM_001174098.1:c.*114A>C | NP_001167569.1:n.*114A>C | |
| NM_018344.5:c.885A>C | NP_060814.4:p.Thr295= | |
| NR_033413.1:n.859A>C | ||
| NR_033414.1:n.632A>C | ||
| XM_006717910.2:c.651A>C | XP_006717973.1:p.Thr217= | |
| NM_001363518.1:c.651A>C | NP_001350447.1:p.Thr217= | |
| XM_017016377.2:c.447A>C | XP_016871866.1:p.Thr149= | |
| XM_017016378.2:c.267A>C | XP_016871867.1:p.Thr89= | |
| NM_018344.6:c.885A>C MANE Select | NP_060814.4:p.Thr295= | |
| NM_001174098.2:c.*114A>C | NP_001167569.1:n.*114A>C | |
| NM_001363518.2:c.651A>C | NP_001350447.1:p.Thr217= | |
| NR_033413.2:n.853A>C | ||
| NR_033414.2:n.626A>C |