HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663006A>C , CM000676.2:g.36663006A>C | GRCh38 |
NC_000014.8:g.37132211A>C , CM000676.1:g.37132211A>C | GRCh37 |
NC_000014.7:g.36201962A>C | NCBI36 |
NG_013357.1:g.10439A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.114A>C MANE Select | ENSP00000355245.6:p.Arg38= | |
ENST00000555639.2:c.114A>C | ENSP00000501203.1:p.Arg38= | |
ENST00000361487.6:c.114A>C | ENSP00000355245.6:p.Arg38= | |
ENST00000402703.6:c.114A>C | ENSP00000384817.2:p.Arg38= | |
ENST00000554201.1:c.-448A>C | ENSP00000450434.1:n.-448A>C | |
ENST00000555639.1:n.416A>C | ||
NM_006194.3:c.114A>C | NP_006185.1:p.Arg38= | |
NM_001372076.1:c.114A>C MANE Select | NP_001359005.1:p.Arg38= | |
NM_006194.4:c.114A>C | NP_006185.1:p.Arg38= |