HGVS | Genome Assembly |
---|---|
NC_000006.12:g.10877122C>A , CM000668.2:g.10877122C>A | GRCh38 |
NC_000006.11:g.10877355C>A , CM000668.1:g.10877355C>A | GRCh37 |
NC_000006.10:g.10985341C>A | NCBI36 |
NG_008970.1:g.9744G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379491.5:c.343+18G>T MANE Select | ENSP00000368805.4:n.343+18G>T | |
ENST00000379491.4:c.343+18G>T | ENSP00000368805.4:n.343+18G>T | |
ENST00000480294.1:c.101-14391C>A | ENSP00000417929.1:n.101-14391C>A | |
NM_004752.3:c.343+18G>T | NP_004743.1:n.343+18G>T | |
XM_011514991.1:c.343+18G>T | XP_011513293.1:n.343+18G>T | |
NM_004752.4:c.343+18G>T MANE Select | NP_004743.1:n.343+18G>T |