Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667375G= , CM000683.2:g.31667375G= | GRCh38 |
| NC_000021.8:g.33039688G= , CM000683.1:g.33039688G= | GRCh37 |
| NC_000021.7:g.31961559G= | NCBI36 |
| NG_008689.1:g.12754G= , LRG_652:g.12754G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357G= MANE Select | ENSP00000270142.7:p.Val119= | |
| ENST00000270142.10:c.357G= | ENSP00000270142.6:p.Val119= | |
| ENST00000389995.4:c.300G= | ENSP00000374645.4:p.Val100= | |
| ENST00000470944.1:n.1285G= | ||
| NM_000454.4:c.357G= , LRG_652t1:c.357G= | NP_000445.1:p.Val119= | |
| NM_000454.5:c.357G= MANE Select | NP_000445.1:p.Val119= |