HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96429263A>C , CM000667.2:g.96429263A>C | GRCh38 |
NC_000005.9:g.95764967A>C , CM000667.1:g.95764967A>C | GRCh37 |
NC_000005.8:g.95790723A>C | NCBI36 |
NG_021161.1:g.9019T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.235T>G MANE Select | ENSP00000308024.2:p.Ser79Ala | |
ENST00000311106.7:c.235T>G | ENSP00000308024.2:p.Ser79Ala | |
ENST00000508626.5:c.94T>G | ENSP00000421600.1:p.Ser32Ala | |
ENST00000509190.1:c.235T>G | ENSP00000427294.1:p.Ser79Ala | |
NM_000439.4:c.235T>G | NP_000430.3:p.Ser79Ala | |
NM_001177875.1:c.94T>G | NP_001171346.1:p.Ser32Ala | |
NR_130776.1:n.354+49611A>C | ||
NM_000439.5:c.235T>G MANE Select | NP_000430.3:p.Ser79Ala | |
NM_001177875.2:c.94T>G | NP_001171346.1:p.Ser32Ala |