Linked Data
dbSNP Id:
rs961217555
gnomAD v2:
10-73121880-G-A
gnomAD v3:
10-71362123-G-A
gnomAD v4:
10-71362123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362123G>A , CM000672.2:g.71362123G>A | GRCh38 |
| NC_000010.10:g.73121880G>A , CM000672.1:g.73121880G>A | GRCh37 |
| NC_000010.9:g.72791886G>A | NCBI36 |
| NG_017066.1:g.47871G>A | |
| NG_017066.2:g.47865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2419G>A | ||
| ENST00000373189.6:c.943G>A MANE Select | ENSP00000362285.5:p.Val315Ile | |
| ENST00000479577.2:c.709G>A | ENSP00000493995.1:p.Val237Ile | |
| ENST00000642198.1:c.*515G>A | ENSP00000494827.1:n.*515G>A | |
| ENST00000642772.1:c.*94+5880G>A | ENSP00000495041.1:n.*94+5880G>A | |
| ENST00000643042.1:c.564G>A | ENSP00000496674.1:n.564G>A | |
| ENST00000643619.1:c.*526G>A | ENSP00000494378.1:n.*526G>A | |
| ENST00000643752.1:c.*269G>A | ENSP00000495000.1:n.*269G>A | |
| ENST00000644088.1:c.*264G>A | ENSP00000494066.1:n.*264G>A | |
| ENST00000644591.1:c.*269G>A | ENSP00000496664.1:n.*269G>A | |
| ENST00000644895.1:c.*99+5880G>A | ENSP00000493872.1:n.*99+5880G>A | |
| ENST00000645345.1:c.*515G>A | ENSP00000495859.1:n.*515G>A | |
| ENST00000647524.1:c.*526G>A | ENSP00000495077.1:n.*526G>A | |
| ENST00000373189.5:c.943G>A | ENSP00000362285.5:p.Val315Ile | |
| ENST00000469204.1:n.440G>A | ||
| NM_001174098.1:c.*172G>A | NP_001167569.1:n.*172G>A | |
| NM_018344.5:c.943G>A | NP_060814.4:p.Val315Ile | |
| NR_033413.1:n.917G>A | ||
| NR_033414.1:n.690G>A | ||
| XM_006717910.2:c.709G>A | XP_006717973.1:p.Val237Ile | |
| NM_001363518.1:c.709G>A | NP_001350447.1:p.Val237Ile | |
| XM_017016377.2:c.505G>A | XP_016871866.1:p.Val169Ile | |
| XM_017016378.2:c.325G>A | XP_016871867.1:p.Val109Ile | |
| NM_018344.6:c.943G>A MANE Select | NP_060814.4:p.Val315Ile | |
| NM_001174098.2:c.*172G>A | NP_001167569.1:n.*172G>A | |
| NM_001363518.2:c.709G>A | NP_001350447.1:p.Val237Ile | |
| NR_033413.2:n.911G>A | ||
| NR_033414.2:n.684G>A |