Linked Data
ClinVar Variation Id:
357744
dbSNP Id:
rs144935927
ExAC:
6:66112410 T / A
gnomAD v2:
6-66112410-T-A
gnomAD v3:
6-65402517-T-A
gnomAD v4:
6-65402517-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65402517T>A , CM000668.2:g.65402517T>A | GRCh38 |
| NC_000006.11:g.66112410T>A , CM000668.1:g.66112410T>A | GRCh37 |
| NC_000006.10:g.66169131T>A | NCBI36 |
| NG_023443.1:g.309709A>T | |
| NG_023443.2:g.309709A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.1145A>T MANE Select | ENSP00000424243.1:p.Asn382Ile | |
| ENST00000342421.9:c.1145A>T | ENSP00000341818.5:p.Asn382Ile | |
| ENST00000370616.6:c.1145A>T | ENSP00000359650.2:p.Asn382Ile | |
| ENST00000370618.7:c.1145A>T | ENSP00000359652.4:p.Asn382Ile | |
| ENST00000370621.7:c.1145A>T | ENSP00000359655.3:p.Asn382Ile | |
| ENST00000393380.6:c.1145A>T | ENSP00000377042.2:p.Asn382Ile | |
| ENST00000503581.5:c.1145A>T | ENSP00000424243.1:p.Asn382Ile | |
| NM_001142800.1:c.1145A>T | NP_001136272.1:p.Asn382Ile | |
| NM_001142801.1:c.1145A>T | NP_001136273.1:p.Asn382Ile | |
| NM_001292009.1:c.1145A>T | NP_001278938.1:p.Asn382Ile | |
| NM_198283.1:c.1145A>T | NP_938024.1:p.Asn382Ile | |
| NM_001142800.2:c.1145A>T MANE Select | NP_001136272.1:p.Asn382Ile | |
| NM_001142801.2:c.1145A>T | NP_001136273.1:p.Asn382Ile | |
| NM_001292009.2:c.1145A>T | NP_001278938.1:p.Asn382Ile | |
| NM_198283.2:c.1145A>T | NP_938024.1:p.Asn382Ile |