HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48368652G>A , CM000675.2:g.48368652G>A | GRCh38 |
NC_000013.10:g.48942788G>A , CM000675.1:g.48942788G>A | GRCh37 |
NC_000013.9:g.47840789G>A | NCBI36 |
NG_009009.1:g.69906G>A , LRG_517:g.69906G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1127+48G>A MANE Select | ENSP00000267163.4:n.1127+48G>A | |
ENST00000650461.1:c.1127+48G>A | ENSP00000497193.1:n.1127+48G>A | |
ENST00000267163.4:c.1127+48G>A | ENSP00000267163.4:n.1127+48G>A | |
NM_000321.2:c.1127+48G>A , LRG_517t1:c.1127+48G>A | NP_000312.2:n.1127+48G>A | |
XM_011535171.1:c.866+48G>A | XP_011533473.1:n.866+48G>A | |
XM_011535171.2:c.866+48G>A | XP_011533473.1:n.866+48G>A | |
XR_002957522.1:n.122-3676C>T | ||
NM_000321.3:c.1127+48G>A MANE Select | NP_000312.2:n.1127+48G>A |