HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039617T>C , CM000663.2:g.55039617T>C | GRCh38 |
NC_000001.10:g.55505290T>C , CM000663.1:g.55505290T>C | GRCh37 |
NC_000001.9:g.55277878T>C | NCBI36 |
NG_009061.1:g.5071T>C , LRG_275:g.5071T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.-221T>C | ENSP00000501161.2:n.-221T>C | |
ENST00000710286.1:c.137T>C | ENSP00000518176.1:p.Val46Ala | |
ENST00000673726.1:c.-221T>C | ENSP00000501004.1:n.-221T>C | |
ENST00000302118.5:c.-221T>C MANE Select | ENSP00000303208.5:n.-221T>C | |
NM_174936.3:c.-221T>C , LRG_275t1:c.-221T>C | NP_777596.2:n.-221T>C | |
NM_174936.4:c.-221T>C MANE Select | NP_777596.2:n.-221T>C |