Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845048A>T , CM000678.2:g.28845048A>T | GRCh38 |
| NC_000016.9:g.28856369A>T , CM000678.1:g.28856369A>T | GRCh37 |
| NC_000016.8:g.28763870A>T | NCBI36 |
| NG_008964.1:g.6361T>A | |
| NG_029706.2:g.3449A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.422T>A MANE Select | ENSP00000322439.3:p.Ile141Asn | |
| ENST00000313511.7:c.422T>A | ENSP00000322439.3:p.Ile141Asn | |
| ENST00000565012.1:c.255T>A | ENSP00000455007.1:p.Asp85Glu | |
| NM_003321.4:c.422T>A | NP_003312.3:p.Ile141Asn | |
| XM_011545928.1:c.422T>A | XP_011544230.1:p.Ile141Asn | |
| NM_001365360.1:c.422T>A | NP_001352289.1:p.Ile141Asn | |
| NM_003321.5:c.422T>A MANE Select | NP_003312.3:p.Ile141Asn | |
| NM_001365360.2:c.422T>A | NP_001352289.1:p.Ile141Asn |