HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65238745_65238746del , CM000674.2:g.65238745_65238746del | GRCh38 |
NC_000012.11:g.65632525_65632526del , CM000674.1:g.65632525_65632526del | GRCh37 |
NC_000012.10:g.63918792_63918793del | NCBI36 |
NG_016210.1:g.74175_74176del | |
NG_016210.2:g.74175_74176del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1852_1853del MANE Select | ENSP00000308369.2:p.Met618ValfsTer? | |
ENST00000308330.2:c.1852_1853del | ENSP00000308369.2:p.Met618ValfsTer? | |
NM_001167614.1:c.1849_1850del | NP_001161086.1:p.Met617ValfsTer? | |
NM_014319.4:c.1852_1853del | NP_055134.2:p.Met618ValfsTer? | |
NM_014319.5:c.1852_1853del MANE Select | NP_055134.2:p.Met618ValfsTer? | |
NM_001167614.2:c.1849_1850del | NP_001161086.1:p.Met617ValfsTer? |