HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160076948G>A , CM000668.2:g.160076948G>A | GRCh38 |
NC_000006.11:g.160497980G>A , CM000668.1:g.160497980G>A | GRCh37 |
NC_000006.10:g.160417970G>A | NCBI36 |
NG_011785.3:g.112850G>A | |
NG_011785.4:g.112850G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356956.6:c.5316+952G>A MANE Select | ENSP00000349437.1:n.5316+952G>A | |
ENST00000650503.1:n.1926+952G>A | ||
ENST00000676781.1:c.*3424+952G>A | ENSP00000504419.1:n.*3424+952G>A | |
ENST00000677704.1:c.*1187+952G>A | ENSP00000503314.1:n.*1187+952G>A | |
ENST00000356956.5:c.5316+952G>A | ENSP00000349437.1:n.5316+952G>A | |
NM_000876.2:c.5316+952G>A | NP_000867.2:n.5316+952G>A | |
NM_000876.3:c.5316+952G>A | NP_000867.2:n.5316+952G>A | |
NM_000876.4:c.5316+952G>A MANE Select | NP_000867.3:n.5316+952G>A |