HGVS | Genome Assembly |
---|---|
NC_000002.12:g.219060191C>G , CM000664.2:g.219060191C>G | GRCh38 |
NC_000002.11:g.219924913C>G , CM000664.1:g.219924913C>G | GRCh37 |
NC_000002.10:g.219633157C>G | NCBI36 |
NG_016741.1:g.5326G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295731.7:c.277G>C MANE Select | ENSP00000295731.5:p.Asp93His | |
ENST00000295731.6:c.277G>C | ENSP00000295731.5:p.Asp93His | |
NM_002181.3:c.277G>C | NP_002172.2:p.Asp93His | |
NM_002181.4:c.277G>C MANE Select | NP_002172.2:p.Asp93His |