HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044894G>C , CM000674.2:g.5044894G>C | GRCh38 |
NC_000012.11:g.5154060G>C , CM000674.1:g.5154060G>C | GRCh37 |
NC_000012.10:g.5024321G>C | NCBI36 |
NG_012198.1:g.5976G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.747G>C MANE Select | ENSP00000252321.3:p.Ala249= | |
ENST00000252321.4:c.747G>C | ENSP00000252321.3:p.Ala249= | |
NM_002234.3:c.747G>C | NP_002225.2:p.Ala249= | |
NM_002234.4:c.747G>C MANE Select | NP_002225.2:p.Ala249= |