Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119177G>T , CM000664.2:g.176119177G>T | GRCh38 |
| NC_000002.11:g.176983905G>T , CM000664.1:g.176983905G>T | GRCh37 |
| NC_000002.10:g.176692151G>T | NCBI36 |
| NG_008133.2:g.12414G>T , LRG_246:g.12414G>T | |
| NG_009225.1:g.1493G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249501.5:c.969G>T MANE Select | ENSP00000249501.4:p.Lys323Asn | |
| ENST00000249501.4:c.969G>T | ENSP00000249501.4:p.Lys323Asn | |
| ENST00000490088.2:n.793G>T | ||
| ENST00000549469.1:n.840G>T | ||
| NM_002148.3:c.969G>T , LRG_246t1:c.969G>T | NP_002139.2:p.Lys323Asn | |
| NM_002148.4:c.969G>T MANE Select | NP_002139.2:p.Lys323Asn |