HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7742141A>G , CM000681.2:g.7742141A>G | GRCh38 |
NC_000019.9:g.7807027A>G , CM000681.1:g.7807027A>G | GRCh37 |
NC_000019.8:g.7713027A>G | NCBI36 |
NG_012167.1:g.10438T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315599.12:c.*898T>C MANE Select | ENSP00000315477.6:n.*898T>C | |
ENST00000676543.1:c.70+3377T>C | ENSP00000503143.1:n.70+3377T>C | |
ENST00000678003.1:c.146-244T>C | ENSP00000504497.1:n.146-244T>C | |
ENST00000678227.1:n.5T>C | ||
ENST00000678780.1:c.1397T>C | ENSP00000503751.1:n.1397T>C | |
ENST00000315599.11:c.*898T>C | ENSP00000315477.6:n.*898T>C | |
NM_001144893.1:c.*898T>C | NP_001138365.1:n.*898T>C | |
NM_001144894.1:c.*898T>C | NP_001138366.1:n.*898T>C | |
NM_001144895.1:c.*898T>C | NP_001138367.1:n.*898T>C | |
NM_001144896.1:c.*898T>C | NP_001138368.1:n.*898T>C | |
NM_001144897.1:c.*898T>C | NP_001138369.1:n.*898T>C | |
NM_001144899.1:c.*898T>C | NP_001138371.1:n.*898T>C | |
NM_021155.3:c.*898T>C | NP_066978.1:n.*898T>C | |
NR_026692.1:n.2280T>C | ||
XM_005272472.3:c.*898T>C | XP_005272529.1:n.*898T>C | |
XM_005272472.4:c.*898T>C | XP_005272529.1:n.*898T>C | |
NM_021155.4:c.*898T>C MANE Select | NP_066978.1:n.*898T>C | |
NM_001144893.2:c.*898T>C | NP_001138365.1:n.*898T>C | |
NM_001144894.2:c.*898T>C | NP_001138366.1:n.*898T>C | |
NM_001144895.2:c.*898T>C | NP_001138367.1:n.*898T>C | |
NM_001144896.2:c.*898T>C | NP_001138368.1:n.*898T>C | |
NM_001144897.2:c.*898T>C | NP_001138369.1:n.*898T>C | |
NM_001144899.2:c.*898T>C | NP_001138371.1:n.*898T>C | |
NR_026692.2:n.2236T>C |