HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160032762C= , CM000668.2:g.160032762C= | GRCh38 |
NC_000006.11:g.160453794C= , CM000668.1:g.160453794C= | GRCh37 |
NC_000006.10:g.160373784C= | NCBI36 |
NG_011785.3:g.68664C= | |
NG_011785.4:g.68664C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356956.6:c.1045+49C= MANE Select | ENSP00000349437.1:n.1045+49C= | |
ENST00000649737.1:n.282+49C= | ||
ENST00000676781.1:c.1045+49C= | ENSP00000504419.1:n.1045+49C= | |
ENST00000677704.1:c.1045+49C= | ENSP00000503314.1:n.1045+49C= | |
ENST00000356956.5:c.1045+49C= | ENSP00000349437.1:n.1045+49C= | |
NM_000876.2:c.1045+49C= | NP_000867.2:n.1045+49C= | |
XR_942419.1:n.1060+49C= | ||
NM_000876.3:c.1045+49C= | NP_000867.2:n.1045+49C= | |
NM_000876.4:c.1045+49C= MANE Select | NP_000867.3:n.1045+49C= |