HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58577155A>C , CM000663.2:g.58577155A>C | GRCh38 |
NC_000001.10:g.59042827A>C , CM000663.1:g.59042827A>C | GRCh37 |
NC_000001.9:g.58815415A>C | NCBI36 |
NG_016237.1:g.5340T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.2T>G MANE Select | ENSP00000360269.2:p.Met1Arg | |
ENST00000371225.3:c.2T>G | ENSP00000360269.2:p.Met1Arg | |
NM_002353.2:c.2T>G | NP_002344.2:p.Met1Arg | |
NM_002353.3:c.2T>G MANE Select | NP_002344.2:p.Met1Arg |