Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709716C>A , CM000663.2:g.114709716C>A | GRCh38 |
| NC_000001.10:g.115252337C>A , CM000663.1:g.115252337C>A | GRCh37 |
| NC_000001.9:g.115053860C>A | NCBI36 |
| NG_007572.1:g.12179G>T , LRG_92:g.12179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.303G>T MANE Select | ENSP00000358548.4:p.Lys101Asn | |
| ENST00000369535.4:c.303G>T | ENSP00000358548.4:p.Lys101Asn | |
| NM_002524.4:c.303G>T | NP_002515.1:p.Lys101Asn | |
| NM_002524.5:c.303G>T MANE Select | NP_002515.1:p.Lys101Asn |