HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192930C>G , CM000685.2:g.50192930C>G | GRCh38 |
NC_000023.10:g.49957581C>G , CM000685.1:g.49957581C>G | GRCh37 |
NC_000023.9:g.49844321C>G | NCBI36 |
NG_012552.1:g.13084G>C | |
NG_012552.2:g.13084G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.1783G>C MANE Select | ENSP00000351327.2:p.Ala595Pro | |
ENST00000358526.6:c.1783G>C | ENSP00000351327.2:p.Ala595Pro | |
ENST00000376064.7:c.1756G>C | ENSP00000365232.3:p.Ala586Pro | |
ENST00000448865.5:c.634G>C | ENSP00000402403.1:p.Ala212Pro | |
ENST00000481402.5:n.1895G>C | ||
NM_003886.2:c.1783G>C | NP_003877.2:p.Ala595Pro | |
NM_139289.1:c.1756G>C | NP_647450.1:p.Ala586Pro | |
NM_003886.3:c.1783G>C MANE Select | NP_003877.2:p.Ala595Pro | |
NM_139289.2:c.1756G>C | NP_647450.1:p.Ala586Pro |