HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133766312T>C , CM000665.2:g.133766312T>C | GRCh38 |
NC_000003.11:g.133485156T>C , CM000665.1:g.133485156T>C | GRCh37 |
NC_000003.10:g.134967846T>C | NCBI36 |
NG_013080.1:g.25180T>C | |
NG_013080.2:g.109315T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000402696.9:c.1365T>C MANE Select | ENSP00000385834.3:p.Ala455= | |
ENST00000402696.7:c.1365T>C | ENSP00000385834.3:p.Ala455= | |
ENST00000461695.1:c.35T>C | ||
NM_001063.3:c.1365T>C | NP_001054.1:p.Ala455= | |
XM_011513100.1:c.1365T>C | XP_011511402.1:p.Ala455= | |
NM_001354703.1:c.1233T>C | NP_001341632.1:p.Ala411= | |
NM_001354704.1:c.984T>C | NP_001341633.1:p.Ala328= | |
NM_001063.4:c.1365T>C MANE Select | NP_001054.2:p.Ala455= | |
NM_001354703.2:c.1233T>C | NP_001341632.2:p.Ala411= | |
NM_001354704.2:c.984T>C | NP_001341633.2:p.Ala328= |