HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13492598A>G , CM000673.2:g.13492598A>G | GRCh38 |
NC_000011.9:g.13514145A>G , CM000673.1:g.13514145A>G | GRCh37 |
NC_000011.8:g.13470721A>G | NCBI36 |
NG_008962.1:g.8423T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282091.6:c.155T>C MANE Select | ENSP00000282091.1:p.Val52Ala | |
ENST00000282091.5:c.155T>C | ENSP00000282091.1:p.Val52Ala | |
ENST00000529816.1:c.155T>C | ENSP00000433208.1:p.Val52Ala | |
NM_000315.2:c.155T>C | NP_000306.1:p.Val52Ala | |
NM_000315.3:c.155T>C | NP_000306.1:p.Val52Ala | |
NM_001316352.1:c.251T>C | NP_001303281.1:p.Val84Ala | |
NM_000315.4:c.155T>C MANE Select | NP_000306.1:p.Val52Ala | |
NM_001316352.2:c.251T>C | NP_001303281.1:p.Val84Ala |