HGVS | Genome Assembly |
---|---|
NC_000006.12:g.47262879A>G , CM000668.2:g.47262879A>G | GRCh38 |
NC_000006.11:g.47230615A>G , CM000668.1:g.47230615A>G | GRCh37 |
NC_000006.10:g.47338574A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296861.2:c.1244-9358T>C MANE Select | ENSP00000296861.2:n.1244-9358T>C | |
NM_014452.4:c.1244-9358T>C | NP_055267.1:n.1244-9358T>C | |
XM_011514495.1:c.*43+4941T>C | XP_011512797.1:n.*43+4941T>C | |
NM_014452.5:c.1244-9358T>C MANE Select | NP_055267.1:n.1244-9358T>C |