HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48364975A>G , CM000675.2:g.48364975A>G | GRCh38 |
NC_000013.10:g.48939111A>G , CM000675.1:g.48939111A>G | GRCh37 |
NC_000013.9:g.47837112A>G | NCBI36 |
NG_009009.1:g.66229A>G , LRG_517:g.66229A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.939+4A>G MANE Select | ENSP00000267163.4:n.939+4A>G | |
ENST00000650461.1:c.939+4A>G | ENSP00000497193.1:n.939+4A>G | |
ENST00000267163.4:c.939+4A>G | ENSP00000267163.4:n.939+4A>G | |
NM_000321.2:c.939+4A>G , LRG_517t1:c.939+4A>G | NP_000312.2:n.939+4A>G | |
XM_011535171.1:c.678+4A>G | XP_011533473.1:n.678+4A>G | |
XM_011535171.2:c.678+4A>G | XP_011533473.1:n.678+4A>G | |
XR_002957522.1:n.123T>C | ||
NM_000321.3:c.939+4A>G MANE Select | NP_000312.2:n.939+4A>G |