Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570045C= , CM000664.2:g.149570045C= | GRCh38 |
| NC_000002.11:g.150426559C= , CM000664.1:g.150426559C= | GRCh37 |
| NC_000002.10:g.150134805C= | NCBI36 |
| NG_009189.1:g.22772G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.820G= MANE Select | ENSP00000301920.5:p.Val274= | |
| ENST00000303319.9:c.820G= | ENSP00000301920.5:p.Val274= | |
| ENST00000422782.2:c.922G= | ENSP00000408331.2:p.Val308= | |
| ENST00000428879.5:c.820G= | ENSP00000389060.1:p.Val274= | |
| NM_015702.2:c.820G= | NP_056517.1:p.Val274= | |
| NM_015702.3:c.820G= MANE Select | NP_056517.1:p.Val274= |