HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136182554G>A , CM000667.2:g.136182554G>A | GRCh38 |
NC_000005.9:g.135518242G>A , CM000667.1:g.135518242G>A | GRCh37 |
NC_000005.8:g.135546141G>A | NCBI36 |
NG_032037.1:g.54708G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545279.6:c.*5074G>A MANE Select | ENSP00000441954.2:n.*5074G>A | |
ENST00000513418.1:c.165-4607G>A | ||
ENST00000545279.5:c.*5074G>A | ENSP00000441954.2:n.*5074G>A | |
ENST00000545620.5:c.*5074G>A | ENSP00000446474.2:n.*5074G>A | |
NM_001001419.2:c.*5074G>A | NP_001001419.1:n.*5074G>A | |
NM_001001420.2:c.*5074G>A | NP_001001420.1:n.*5074G>A | |
NM_005903.6:c.*5074G>A | NP_005894.3:n.*5074G>A | |
NM_005903.7:c.*5074G>A MANE Select | NP_005894.3:n.*5074G>A | |
NM_001001419.3:c.*5074G>A | NP_001001419.1:n.*5074G>A | |
NM_001001420.3:c.*5074G>A | NP_001001420.1:n.*5074G>A |