HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192714A>C , CM000685.2:g.50192714A>C | GRCh38 |
NC_000023.10:g.49957365A>C , CM000685.1:g.49957365A>C | GRCh37 |
NC_000023.9:g.49844105A>C | NCBI36 |
NG_012552.1:g.13300T>G | |
NG_012552.2:g.13300T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.1999T>G MANE Select | ENSP00000351327.2:p.Ser667Ala | |
ENST00000358526.6:c.1999T>G | ENSP00000351327.2:p.Ser667Ala | |
ENST00000376064.7:c.1972T>G | ENSP00000365232.3:p.Ser658Ala | |
ENST00000481402.5:n.2111T>G | ||
NM_003886.2:c.1999T>G | NP_003877.2:p.Ser667Ala | |
NM_139289.1:c.1972T>G | NP_647450.1:p.Ser658Ala | |
NM_003886.3:c.1999T>G MANE Select | NP_003877.2:p.Ser667Ala | |
NM_139289.2:c.1972T>G | NP_647450.1:p.Ser658Ala |