HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12778033A>T , CM000686.2:g.12778033A>T | GRCh38 |
NC_000024.9:g.14889967A>T , CM000686.1:g.14889967A>T | GRCh37 |
NC_000024.8:g.13399361A>T | NCBI36 |
NG_008311.1:g.81808A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.2654A>T | ENSP00000498372.1:p.Lys885Ile | |
ENST00000338981.7:c.2654A>T MANE Select | ENSP00000342812.3:p.Lys885Ile | |
ENST00000426564.6:n.2666A>T | ||
NM_004654.3:c.2654A>T | NP_004645.2:p.Lys885Ile | |
XM_011531469.1:c.2654A>T | XP_011529771.1:p.Lys885Ile | |
XM_011531470.1:c.2420A>T | XP_011529772.1:p.Lys807Ile | |
XM_017030078.2:c.2669A>T | XP_016885567.1:p.Lys890Ile | |
NM_004654.4:c.2654A>T MANE Select | NP_004645.2:p.Lys885Ile |