Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176118964G= , CM000664.2:g.176118964G= | GRCh38 |
| NC_000002.11:g.176983692G= , CM000664.1:g.176983692G= | GRCh37 |
| NC_000002.10:g.176691938G= | NCBI36 |
| NG_008133.2:g.12201G= , LRG_246:g.12201G= | |
| NG_009225.1:g.1280G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.756G= MANE Select | ENSP00000249501.4:p.Lys252= | |
| ENST00000249501.4:c.756G= | ENSP00000249501.4:p.Lys252= | |
| ENST00000490088.2:n.580G= | ||
| ENST00000549469.1:n.627G= | ||
| NM_002148.3:c.756G= , LRG_246t1:c.756G= | NP_002139.2:p.Lys252= | |
| NM_002148.4:c.756G= MANE Select | NP_002139.2:p.Lys252= |