Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259861A>T , CM000667.2:g.151259861A>T | GRCh38 |
| NC_000005.9:g.150639422A>T , CM000667.1:g.150639422A>T | GRCh37 |
| NC_000005.8:g.150619615A>T | NCBI36 |
| NG_009059.1:g.11810A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.188A>T MANE Select | ENSP00000349687.3:p.Asn63Ile | |
| ENST00000357164.3:c.188A>T | ENSP00000349687.3:p.Asn63Ile | |
| ENST00000523004.1:c.63A>T | ||
| ENST00000523466.5:c.233A>T | ENSP00000429100.1:p.Asn78Ile | |
| NM_000405.4:c.188A>T | NP_000396.2:p.Asn63Ile | |
| NM_001167607.1:c.188A>T | NP_001161079.1:p.Asn63Ile | |
| NM_000405.5:c.188A>T MANE Select | NP_000396.2:p.Asn63Ile | |
| NM_001167607.2:c.188A>T | NP_001161079.1:p.Asn63Ile | |
| NM_001167607.3:c.188A>T | NP_001161079.1:p.Asn63Ile |