Linked Data
dbSNP Id:
rs556305315
ExAC:
7:107557938 A / T
gnomAD v2:
7-107557938-A-T
gnomAD v4:
7-107917493-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917493A>T , CM000669.2:g.107917493A>T | GRCh38 |
| NC_000007.13:g.107557938A>T , CM000669.1:g.107557938A>T | GRCh37 |
| NC_000007.12:g.107345174A>T | NCBI36 |
| NG_008045.1:g.31353A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1236+31A>T MANE Select | ENSP00000205402.3:n.1236+31A>T | |
| ENST00000205402.9:c.1236+31A>T | ENSP00000205402.3:n.1236+31A>T | |
| ENST00000415325.5:c.*910+31A>T | ENSP00000402593.1:n.*910+31A>T | |
| ENST00000417551.5:c.1236+31A>T | ENSP00000390667.1:n.1236+31A>T | |
| ENST00000437604.6:c.1092+31A>T | ENSP00000387542.2:n.1092+31A>T | |
| ENST00000440410.5:c.1167+31A>T | ENSP00000417016.1:n.1167+31A>T | |
| NM_000108.4:c.1236+31A>T | NP_000099.2:n.1236+31A>T | |
| NM_001289750.1:c.939+31A>T | NP_001276679.1:n.939+31A>T | |
| NM_001289751.1:c.1167+31A>T | NP_001276680.1:n.1167+31A>T | |
| NM_001289752.1:c.1092+31A>T | NP_001276681.1:n.1092+31A>T | |
| NM_000108.5:c.1236+31A>T MANE Select | NP_000099.2:n.1236+31A>T |