HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48380101T= , CM000675.2:g.48380101T= | GRCh38 |
NC_000013.10:g.48954237T= , CM000675.1:g.48954237T= | GRCh37 |
NC_000013.9:g.47852238T= | NCBI36 |
NG_009009.1:g.81355T= , LRG_517:g.81355T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.1421+17T= MANE Select | ENSP00000267163.4:n.1421+17T= | |
ENST00000650461.1:c.1421+17T= | ENSP00000497193.1:n.1421+17T= | |
ENST00000267163.4:c.1421+17T= | ENSP00000267163.4:n.1421+17T= | |
NM_000321.2:c.1421+17T= , LRG_517t1:c.1421+17T= | NP_000312.2:n.1421+17T= | |
XM_011535171.1:c.1160+17T= | XP_011533473.1:n.1160+17T= | |
XM_011535171.2:c.1160+17T= | XP_011533473.1:n.1160+17T= | |
NM_000321.3:c.1421+17T= MANE Select | NP_000312.2:n.1421+17T= |