HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48368631A>C , CM000675.2:g.48368631A>C | GRCh38 |
NC_000013.10:g.48942767A>C , CM000675.1:g.48942767A>C | GRCh37 |
NC_000013.9:g.47840768A>C | NCBI36 |
NG_009009.1:g.69885A>C , LRG_517:g.69885A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1127+27A>C MANE Select | ENSP00000267163.4:n.1127+27A>C | |
ENST00000650461.1:c.1127+27A>C | ENSP00000497193.1:n.1127+27A>C | |
ENST00000267163.4:c.1127+27A>C | ENSP00000267163.4:n.1127+27A>C | |
NM_000321.2:c.1127+27A>C , LRG_517t1:c.1127+27A>C | NP_000312.2:n.1127+27A>C | |
XM_011535171.1:c.866+27A>C | XP_011533473.1:n.866+27A>C | |
XM_011535171.2:c.866+27A>C | XP_011533473.1:n.866+27A>C | |
XR_002957522.1:n.122-3655T>G | ||
NM_000321.3:c.1127+27A>C MANE Select | NP_000312.2:n.1127+27A>C |