Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667287C>T , CM000683.2:g.31667287C>T | GRCh38 |
| NC_000021.8:g.33039600C>T , CM000683.1:g.33039600C>T | GRCh37 |
| NC_000021.7:g.31961471C>T | NCBI36 |
| NG_008689.1:g.12666C>T , LRG_652:g.12666C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.269C>T MANE Select | NP_000445.1:p.Ala90Val |
| ENST00000270142.11:c.269C>T MANE Select | ENSP00000270142.7:p.Ala90Val |
| NM_000454.4:c.269C>T , LRG_652t1:c.269C>T | NP_000445.1:p.Ala90Val |
| ENST00000270142.10:c.269C>T | ENSP00000270142.6:p.Ala90Val |
| ENST00000389995.4:c.212C>T | ENSP00000374645.4:p.Ala71Val |
| ENST00000470944.1:n.1197C>T | |
| ENST00000476106.5:n.532C>T |