HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96393329C>G , CM000667.2:g.96393329C>G | GRCh38 |
NC_000005.9:g.95729033C>G , CM000667.1:g.95729033C>G | GRCh37 |
NC_000005.8:g.95754789C>G | NCBI36 |
NG_021161.1:g.44953G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.1934G>C MANE Select | ENSP00000308024.2:p.Ser645Thr | |
ENST00000311106.7:c.1934G>C | ENSP00000308024.2:p.Ser645Thr | |
ENST00000508626.5:c.1793G>C | ENSP00000421600.1:p.Ser598Thr | |
ENST00000513085.1:n.1077G>C | ||
NM_000439.4:c.1934G>C | NP_000430.3:p.Ser645Thr | |
NM_001177875.1:c.1793G>C | NP_001171346.1:p.Ser598Thr | |
NR_130776.1:n.354+13677C>G | ||
NM_000439.5:c.1934G>C MANE Select | NP_000430.3:p.Ser645Thr | |
NM_001177875.2:c.1793G>C | NP_001171346.1:p.Ser598Thr |