Linked Data
dbSNP Id:
rs774906415
ExAC:
10:73121794 T / C
gnomAD v2:
10-73121794-T-C
gnomAD v4:
10-71362037-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362037T>C , CM000672.2:g.71362037T>C | GRCh38 |
| NC_000010.10:g.73121794T>C , CM000672.1:g.73121794T>C | GRCh37 |
| NC_000010.9:g.72791800T>C | NCBI36 |
| NG_017066.1:g.47785T>C | |
| NG_017066.2:g.47779T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2333T>C | ||
| ENST00000373189.6:c.857T>C MANE Select | ENSP00000362285.5:p.Val286Ala | |
| ENST00000479577.2:c.623T>C | ENSP00000493995.1:p.Val208Ala | |
| ENST00000642198.1:c.*429T>C | ENSP00000494827.1:n.*429T>C | |
| ENST00000642772.1:c.*94+5794T>C | ENSP00000495041.1:n.*94+5794T>C | |
| ENST00000643042.1:c.478T>C | ENSP00000496674.1:n.478T>C | |
| ENST00000643619.1:c.*440T>C | ENSP00000494378.1:n.*440T>C | |
| ENST00000643752.1:c.*183T>C | ENSP00000495000.1:n.*183T>C | |
| ENST00000644088.1:c.*178T>C | ENSP00000494066.1:n.*178T>C | |
| ENST00000644591.1:c.*183T>C | ENSP00000496664.1:n.*183T>C | |
| ENST00000644895.1:c.*99+5794T>C | ENSP00000493872.1:n.*99+5794T>C | |
| ENST00000645345.1:c.*429T>C | ENSP00000495859.1:n.*429T>C | |
| ENST00000647524.1:c.*440T>C | ENSP00000495077.1:n.*440T>C | |
| ENST00000373189.5:c.857T>C | ENSP00000362285.5:p.Val286Ala | |
| ENST00000469204.1:n.354T>C | ||
| NM_001174098.1:c.*86T>C | NP_001167569.1:n.*86T>C | |
| NM_018344.5:c.857T>C | NP_060814.4:p.Val286Ala | |
| NR_033413.1:n.831T>C | ||
| NR_033414.1:n.604T>C | ||
| XM_006717910.2:c.623T>C | XP_006717973.1:p.Val208Ala | |
| NM_001363518.1:c.623T>C | NP_001350447.1:p.Val208Ala | |
| XM_017016377.2:c.419T>C | XP_016871866.1:p.Val140Ala | |
| XM_017016378.2:c.239T>C | XP_016871867.1:p.Val80Ala | |
| NM_018344.6:c.857T>C MANE Select | NP_060814.4:p.Val286Ala | |
| NM_001174098.2:c.*86T>C | NP_001167569.1:n.*86T>C | |
| NM_001363518.2:c.623T>C | NP_001350447.1:p.Val208Ala | |
| NR_033413.2:n.825T>C | ||
| NR_033414.2:n.598T>C |