Linked Data
dbSNP Id:
rs771178438
ExAC:
10:55566520 T / A
gnomAD v2:
10-55566520-T-A
gnomAD v4:
10-53806760-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806760T>A , CM000672.2:g.53806760T>A | GRCh38 |
| NC_000010.10:g.55566520T>A , CM000672.1:g.55566520T>A | GRCh37 |
| NC_000010.9:g.55236526T>A | NCBI36 |
| NG_009191.2:g.999532A>T | |
| NG_009191.3:g.1827423A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.3901A>T | ||
| ENST00000644397.2:c.5042A>T MANE Select | ENSP00000495195.1:p.Asp1681Val | |
| ENST00000373965.6:c.4853A>T | ENSP00000363076.3:p.Asp1618Val | |
| ENST00000414778.5:c.4850A>T | ENSP00000410304.2:p.Asp1617Val | |
| ENST00000495484.5:c.1070A>T | ENSP00000480780.1:p.Asp357Val | |
| ENST00000614895.4:c.4865A>T | ENSP00000478512.1:p.Asp1622Val | |
| ENST00000616114.4:c.4847A>T | ENSP00000483745.1:p.Asp1616Val | |
| ENST00000618301.4:c.1202A>T | ENSP00000482780.1:p.Asp401Val | |
| ENST00000621708.4:c.4868A>T | ENSP00000484454.1:p.Asp1623Val | |
| NM_001142771.1:c.4868A>T | NP_001136243.1:p.Asp1623Val | |
| NM_001142772.1:c.4853A>T | NP_001136244.1:p.Asp1618Val | |
| NM_001354420.1:c.4847A>T | NP_001341349.1:p.Asp1616Val | |
| NM_001354429.1:c.4976A>T | NP_001341358.1:p.Asp1659Val | |
| XR_001747192.2:n.11334A>T | ||
| XR_001747193.2:n.11325A>T | ||
| NM_001142771.2:c.4868A>T | NP_001136243.1:p.Asp1623Val | |
| NM_001142772.2:c.4853A>T | NP_001136244.1:p.Asp1618Val | |
| NM_001354420.2:c.4847A>T | NP_001341349.1:p.Asp1616Val | |
| NM_001354429.2:c.4976A>T | NP_001341358.1:p.Asp1659Val | |
| NM_001384140.1:c.5042A>T MANE Select | NP_001371069.1:p.Asp1681Val |