Linked Data
dbSNP Id:
rs753510042
ExAC:
11:64518886 A / T
gnomAD v2:
11-64518886-A-T
gnomAD v3:
11-64751414-A-T
gnomAD v4:
11-64751414-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751414A>T , CM000673.2:g.64751414A>T | GRCh38 |
| NC_000011.9:g.64518886A>T , CM000673.1:g.64518886A>T | GRCh37 |
| NC_000011.8:g.64275462A>T | NCBI36 |
| NG_013018.1:g.14302T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1880T>A MANE Select | ENSP00000164139.3:p.Ile627Asn | |
| ENST00000164139.3:c.1880T>A | ENSP00000164139.3:p.Ile627Asn | |
| ENST00000377432.7:c.1616T>A | ENSP00000366650.3:p.Ile539Asn | |
| ENST00000462303.1:n.204T>A | ||
| NM_001164716.1:c.1616T>A | NP_001158188.1:p.Ile539Asn | |
| NM_005609.2:c.1880T>A | NP_005600.1:p.Ile627Asn | |
| NM_005609.3:c.1880T>A | NP_005600.1:p.Ile627Asn | |
| NM_005609.4:c.1880T>A MANE Select | NP_005600.1:p.Ile627Asn |