HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27765605A>G , CM000679.2:g.27765605A>G | GRCh38 |
NC_000017.10:g.26092631A>G , CM000679.1:g.26092631A>G | GRCh37 |
NC_000017.9:g.23116758A>G | NCBI36 |
NG_011470.1:g.39925T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697337.1:c.*3092+2T>C | ENSP00000513259.1:n.*3092+2T>C | |
ENST00000697338.1:c.2206T>C | ENSP00000513260.1:n.2206T>C | |
ENST00000697339.1:c.1390+2T>C | ENSP00000513261.1:n.1390+2T>C | |
ENST00000697340.1:c.*1075T>C | ENSP00000513262.1:n.*1075T>C | |
ENST00000697341.1:n.2328T>C | ||
ENST00000313735.11:c.2358T>C MANE Select | ENSP00000327251.6:p.Gly786= | |
ENST00000646938.1:c.2355T>C | ENSP00000494870.1:p.Gly785= | |
ENST00000313735.10:c.2358T>C | ENSP00000327251.6:p.Gly786= | |
ENST00000621962.1:c.2241T>C | ENSP00000482291.1:p.Gly747= | |
NM_000625.4:c.2358T>C MANE Select | NP_000616.3:p.Gly786= | |
XM_011524859.1:c.2358T>C | XP_011523161.1:p.Gly786= | |
XM_011524860.1:c.2355T>C | XP_011523162.1:p.Gly785= | |
XM_011524861.1:c.2356+2T>C | XP_011523163.1:n.2356+2T>C | |
XM_011524862.1:c.1692T>C | XP_011523164.1:p.Gly564= |