HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117020T= , CM000669.2:g.19117020T= | GRCh38 |
NC_000007.13:g.19156643T= , CM000669.1:g.19156643T= | GRCh37 |
NC_000007.12:g.19123168T= | NCBI36 |
NG_008114.1:g.5653A= | |
NG_008114.2:g.5653A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.302A= MANE Select | ENSP00000242261.5:p.Gln101= | |
ENST00000242261.5:c.302A= | ENSP00000242261.5:p.Gln101= | |
ENST00000354571.5:c.99A= | ||
NM_000474.3:c.302A= | NP_000465.1:p.Gln101= | |
XM_011515496.1:c.302A= | XP_011513798.1:p.Gln101= | |
NR_149001.1:n.653A= | ||
NM_000474.4:c.302A= MANE Select | NP_000465.1:p.Gln101= | |
NR_149001.2:n.617A= |