HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612745C>A , CM000679.2:g.41612745C>A | GRCh38 |
NC_000017.10:g.39768997C>A , CM000679.1:g.39768997C>A | GRCh37 |
NC_000017.9:g.37022523C>A | NCBI36 |
NG_008301.1:g.5083G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.-57G>T MANE Select | ENSP00000301653.3:n.-57G>T | |
ENST00000301653.8:c.-57G>T | ENSP00000301653.3:n.-57G>T | |
ENST00000588319.1:n.21G>T | ||
ENST00000590990.1:c.-36-21G>T | ENSP00000467105.1:n.-36-21G>T | |
ENST00000593067.1:c.-313+45G>T | ENSP00000467124.1:n.-313+45G>T | |
NM_005557.3:c.-57G>T | NP_005548.2:n.-57G>T | |
NM_005557.4:c.-57G>T MANE Select | NP_005548.2:n.-57G>T |