Linked Data
dbSNP Id:
rs772599884
ExAC:
10:73121926 T / C
gnomAD v2:
10-73121926-T-C
gnomAD v4:
10-71362169-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362169T>C , CM000672.2:g.71362169T>C | GRCh38 |
| NC_000010.10:g.73121926T>C , CM000672.1:g.73121926T>C | GRCh37 |
| NC_000010.9:g.72791932T>C | NCBI36 |
| NG_017066.1:g.47917T>C | |
| NG_017066.2:g.47911T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2465T>C | ||
| ENST00000373189.6:c.989T>C MANE Select | ENSP00000362285.5:p.Ile330Thr | |
| ENST00000479577.2:c.755T>C | ENSP00000493995.1:p.Ile252Thr | |
| ENST00000642198.1:c.*561T>C | ENSP00000494827.1:n.*561T>C | |
| ENST00000642772.1:c.*94+5926T>C | ENSP00000495041.1:n.*94+5926T>C | |
| ENST00000643042.1:c.610T>C | ENSP00000496674.1:n.610T>C | |
| ENST00000643619.1:c.*572T>C | ENSP00000494378.1:n.*572T>C | |
| ENST00000643752.1:c.*315T>C | ENSP00000495000.1:n.*315T>C | |
| ENST00000644088.1:c.*310T>C | ENSP00000494066.1:n.*310T>C | |
| ENST00000644591.1:c.*315T>C | ENSP00000496664.1:n.*315T>C | |
| ENST00000644895.1:c.*99+5926T>C | ENSP00000493872.1:n.*99+5926T>C | |
| ENST00000645345.1:c.*561T>C | ENSP00000495859.1:n.*561T>C | |
| ENST00000647524.1:c.*572T>C | ENSP00000495077.1:n.*572T>C | |
| ENST00000373189.5:c.989T>C | ENSP00000362285.5:p.Ile330Thr | |
| ENST00000469204.1:n.486T>C | ||
| NM_001174098.1:c.*218T>C | NP_001167569.1:n.*218T>C | |
| NM_018344.5:c.989T>C | NP_060814.4:p.Ile330Thr | |
| NR_033413.1:n.963T>C | ||
| NR_033414.1:n.736T>C | ||
| XM_006717910.2:c.755T>C | XP_006717973.1:p.Ile252Thr | |
| NM_001363518.1:c.755T>C | NP_001350447.1:p.Ile252Thr | |
| XM_017016377.2:c.551T>C | XP_016871866.1:p.Ile184Thr | |
| XM_017016378.2:c.371T>C | XP_016871867.1:p.Ile124Thr | |
| NM_018344.6:c.989T>C MANE Select | NP_060814.4:p.Ile330Thr | |
| NM_001174098.2:c.*218T>C | NP_001167569.1:n.*218T>C | |
| NM_001363518.2:c.755T>C | NP_001350447.1:p.Ile252Thr | |
| NR_033413.2:n.957T>C | ||
| NR_033414.2:n.730T>C |