HGVS | Genome Assembly |
---|---|
NC_000007.14:g.143352028G>T , CM000669.2:g.143352028G>T | GRCh38 |
NC_000007.13:g.143049121G>T , CM000669.1:g.143049121G>T | GRCh37 |
NC_000007.12:g.142759243G>T | NCBI36 |
NG_009815.1:g.40903G>T | |
NG_009815.2:g.40903G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650516.2:c.*63G>T | ENSP00000498052.2:n.*63G>T | |
ENST00000343257.7:c.*63G>T MANE Select | ENSP00000339867.2:n.*63G>T | |
ENST00000343257.6:c.*63G>T | ENSP00000339867.2:n.*63G>T | |
XM_011515781.1:c.*63G>T | XP_011514083.1:n.*63G>T | |
XM_011515782.1:c.*63G>T | XP_011514084.1:n.*63G>T | |
NM_000083.3:c.*63G>T MANE Select | NP_000074.3:n.*63G>T | |
NR_046453.2:n.2985G>T |