HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63945512T= , CM000679.2:g.63945512T= | GRCh38 |
NC_000017.10:g.62022872T= , CM000679.1:g.62022872T= | GRCh37 |
NC_000017.9:g.59376604T= | NCBI36 |
NG_011699.1:g.32407A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000435607.3:c.3568A= MANE Select | ENSP00000396320.1:p.Ile1190= | |
ENST00000578147.5:c.3568A= | ENSP00000463963.1:p.Ile1190= | |
NM_000334.4:c.3568A= MANE Select | NP_000325.4:p.Ile1190= | |
XM_005257566.3:c.3568A= | XP_005257623.1:p.Ile1190= |