HGVS | Genome Assembly |
---|---|
NC_000005.10:g.137619738C>T , CM000667.2:g.137619738C>T | GRCh38 |
NC_000005.9:g.136955427C>T , CM000667.1:g.136955427C>T | GRCh37 |
NC_000005.8:g.136983326C>T | NCBI36 |
NG_032569.1:g.121353G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309755.9:c.*2360G>A MANE Select | ENSP00000312397.4:n.*2360G>A | |
ENST00000309755.8:c.*2360G>A | ENSP00000312397.4:n.*2360G>A | |
ENST00000506491.5:c.*2360G>A | ENSP00000424828.1:n.*2360G>A | |
ENST00000508657.5:c.*2360G>A | ENSP00000422099.1:n.*2360G>A | |
ENST00000509694.1:n.623-1874G>A | ||
NM_001257194.1:c.*2360G>A | NP_001244123.1:n.*2360G>A | |
NM_001257195.1:c.*2360G>A | NP_001244124.1:n.*2360G>A | |
NM_017415.2:c.*2360G>A | NP_059111.2:n.*2360G>A | |
NM_017415.3:c.*2360G>A MANE Select | NP_059111.2:n.*2360G>A | |
NM_001257195.2:c.*2360G>A | NP_001244124.1:n.*2360G>A |