Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659786T>C , CM000683.2:g.31659786T>C | GRCh38 |
| NC_000021.8:g.33032099T>C , CM000683.1:g.33032099T>C | GRCh37 |
| NC_000021.7:g.31953970T>C | NCBI36 |
| NG_008689.1:g.5165T>C , LRG_652:g.5165T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.17T>C MANE Select | ENSP00000270142.7:p.Val6Ala | |
| ENST00000270142.10:c.17T>C | ENSP00000270142.6:p.Val6Ala | |
| ENST00000389995.4:c.15+2T>C | ENSP00000374645.4:n.15+2T>C | |
| ENST00000470944.1:n.78T>C | ||
| ENST00000476106.5:n.94T>C | ||
| NM_000454.4:c.17T>C , LRG_652t1:c.17T>C | NP_000445.1:p.Val6Ala | |
| NM_000454.5:c.17T>C MANE Select | NP_000445.1:p.Val6Ala |