HGVS | Genome Assembly |
---|---|
NC_000003.12:g.46705910G>A , CM000665.2:g.46705910G>A | GRCh38 |
NC_000003.11:g.46747400G>A , CM000665.1:g.46747400G>A | GRCh37 |
NC_000003.10:g.46722404G>A | NCBI36 |
NG_011628.1:g.9578G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643606.3:c.211+3G>A MANE Select | ENSP00000494576.2:n.211+3G>A | |
ENST00000644830.1:c.52+3G>A | ENSP00000495111.1:n.52+3G>A | |
ENST00000651652.1:c.109+3G>A | ENSP00000498953.1:n.109+3G>A | |
ENST00000326431.3:c.211+3G>A | ENSP00000324775.3:n.211+3G>A | |
NM_147196.2:c.211+3G>A | NP_671729.2:n.211+3G>A | |
XM_006713097.2:c.52+3G>A | XP_006713160.1:n.52+3G>A | |
XM_011533574.1:c.52+3G>A | XP_011531876.1:n.52+3G>A | |
XM_006713097.4:c.52+3G>A | XP_006713160.1:n.52+3G>A | |
XM_024453446.1:c.52+3G>A | XP_024309214.1:n.52+3G>A | |
NM_001370524.1:c.52+3G>A | NP_001357453.1:n.52+3G>A | |
NM_001370525.1:c.52+3G>A | NP_001357454.1:n.52+3G>A | |
NM_147196.3:c.211+3G>A MANE Select | NP_671729.2:n.211+3G>A |