HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993228C>G , CM000678.2:g.30993228C>G | GRCh38 |
NC_000016.9:g.31004549C>G , CM000678.1:g.31004549C>G | GRCh37 |
NC_000016.8:g.30912050C>G | NCBI36 |
NG_041829.1:g.22281G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.688G>C MANE Select | ENSP00000215095.5:p.Asp230His | |
ENST00000565419.2:c.688G>C | ENSP00000455899.1:p.Asp230His | |
ENST00000215095.9:c.688G>C | ENSP00000215095.5:p.Asp230His | |
ENST00000565419.1:c.688G>C | ENSP00000455899.1:p.Asp230His | |
ENST00000569638.5:c.436G>C | ENSP00000457067.1:p.Asp146His | |
NM_052874.4:c.688G>C | NP_443106.1:p.Asp230His | |
XM_017022893.1:c.670G>C | XP_016878382.1:p.Asp224His | |
NM_052874.5:c.688G>C MANE Select | NP_443106.1:p.Asp230His |