HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35500013A>T , CM000668.2:g.35500013A>T | GRCh38 |
NC_000006.11:g.35467790A>T , CM000668.1:g.35467790A>T | GRCh37 |
NC_000006.10:g.35575768A>T | NCBI36 |
NG_009077.1:g.17858T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000229771.11:c.1463T>A MANE Select | ENSP00000229771.6:p.Val488Asp | |
ENST00000229771.10:c.1463T>A | ENSP00000229771.6:p.Val488Asp | |
ENST00000322263.8:c.1304T>A | ENSP00000319414.4:p.Val435Asp | |
ENST00000614066.4:c.1457T>A | ENSP00000477534.1:p.Val486Asp | |
NM_001289395.1:c.1304T>A | NP_001276324.1:p.Val435Asp | |
NM_003322.4:c.1463T>A | NP_003313.3:p.Val488Asp | |
NM_003322.5:c.1463T>A | NP_003313.3:p.Val488Asp | |
NM_003322.6:c.1463T>A MANE Select | NP_003313.3:p.Val488Asp | |
NM_001289395.2:c.1304T>A | NP_001276324.1:p.Val435Asp |