Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111072010A>T , CM000667.2:g.111072010A>T | GRCh38 |
| NC_000005.9:g.110407708A>T , CM000667.1:g.110407708A>T | GRCh37 |
| NC_000005.8:g.110435607A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.120A>T MANE Select | ENSP00000339804.3:p.Lys40Asn | |
| ENST00000344895.3:c.120A>T | ENSP00000339804.3:p.Lys40Asn | |
| ENST00000420978.6:c.120A>T | ENSP00000399099.2:p.Lys40Asn | |
| NM_033035.4:c.120A>T | NP_149024.1:p.Lys40Asn | |
| NR_045089.1:n.1524A>T | ||
| NM_033035.5:c.120A>T MANE Select | NP_149024.1:p.Lys40Asn | |
| NR_045089.2:n.1542A>T |