HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30211673G>T , CM000679.2:g.30211673G>T | GRCh38 |
NC_000017.10:g.28538691G>T , CM000679.1:g.28538691G>T | GRCh37 |
NC_000017.9:g.25562817G>T | NCBI36 |
NG_011747.2:g.29264C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.1205-249C>A MANE Select | ENSP00000498537.1:n.1205-249C>A | |
ENST00000261707.7:c.1205-249C>A | ENSP00000261707.3:n.1205-249C>A | |
ENST00000394821.2:c.1205-249C>A | ENSP00000378298.2:n.1205-249C>A | |
ENST00000401766.6:c.1205-249C>A | ENSP00000385822.2:n.1205-249C>A | |
NM_001045.5:c.1205-249C>A | NP_001036.1:n.1205-249C>A | |
NM_001045.6:c.1205-249C>A MANE Select | NP_001036.1:n.1205-249C>A |