HGVS | Genome Assembly |
---|---|
NC_000007.14:g.143352018G>A , CM000669.2:g.143352018G>A | GRCh38 |
NC_000007.13:g.143049111G>A , CM000669.1:g.143049111G>A | GRCh37 |
NC_000007.12:g.142759233G>A | NCBI36 |
NG_009815.1:g.40893G>A | |
NG_009815.2:g.40893G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650516.2:c.*53G>A | ENSP00000498052.2:n.*53G>A | |
ENST00000343257.7:c.*53G>A MANE Select | ENSP00000339867.2:n.*53G>A | |
ENST00000343257.6:c.*53G>A | ENSP00000339867.2:n.*53G>A | |
XM_011515781.1:c.*53G>A | XP_011514083.1:n.*53G>A | |
XM_011515782.1:c.*53G>A | XP_011514084.1:n.*53G>A | |
NM_000083.3:c.*53G>A MANE Select | NP_000074.3:n.*53G>A | |
NR_046453.2:n.2975G>A |