Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663860T>C , CM000683.2:g.31663860T>C | GRCh38 |
| NC_000021.8:g.33036173T>C , CM000683.1:g.33036173T>C | GRCh37 |
| NC_000021.7:g.31958044T>C | NCBI36 |
| NG_008689.1:g.9239T>C , LRG_652:g.9239T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.143T>C MANE Select | NP_000445.1:p.Val48Ala |
| ENST00000270142.11:c.143T>C MANE Select | ENSP00000270142.7:p.Val48Ala |
| NM_000454.4:c.143T>C , LRG_652t1:c.143T>C | NP_000445.1:p.Val48Ala |
| ENST00000270142.10:c.143T>C | ENSP00000270142.6:p.Val48Ala |
| ENST00000389995.4:c.86T>C | ENSP00000374645.4:p.Val29Ala |
| ENST00000470944.1:n.1071T>C | |
| ENST00000476106.5:n.406T>C |