HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48380230C>T , CM000675.2:g.48380230C>T | GRCh38 |
NC_000013.10:g.48954366C>T , CM000675.1:g.48954366C>T | GRCh37 |
NC_000013.9:g.47852367C>T | NCBI36 |
NG_009009.1:g.81484C>T , LRG_517:g.81484C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1487C>T MANE Select | ENSP00000267163.4:p.Ala496Val | |
ENST00000650461.1:c.1487C>T | ENSP00000497193.1:p.Ala496Val | |
ENST00000267163.4:c.1487C>T | ENSP00000267163.4:p.Ala496Val | |
NM_000321.2:c.1487C>T , LRG_517t1:c.1487C>T | NP_000312.2:p.Ala496Val | |
XM_011535171.1:c.1226C>T | XP_011533473.1:p.Ala409Val | |
XM_011535171.2:c.1226C>T | XP_011533473.1:p.Ala409Val | |
NM_000321.3:c.1487C>T MANE Select | NP_000312.2:p.Ala496Val |