HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202583G>A , CM000668.2:g.32202583G>A | GRCh38 |
NC_000006.11:g.32170360G>A , CM000668.1:g.32170360G>A | GRCh37 |
NC_000006.10:g.32278338G>A | NCBI36 |
NG_028190.1:g.26485C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3248C>T MANE Select | ENSP00000364163.3:p.Thr1083Ile | |
ENST00000474612.1:n.1334C>T | ||
NM_004557.3:c.3248C>T | NP_004548.3:p.Thr1083Ile | |
NR_134949.1:n.3473-1083C>T | ||
NR_134950.1:n.3371-1083C>T | ||
NM_004557.4:c.3248C>T MANE Select | NP_004548.3:p.Thr1083Ile | |
NR_134949.2:n.3473-1083C>T | ||
NR_134950.2:n.3371-1083C>T |