HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73193273G>C , CM000679.2:g.73193273G>C | GRCh38 |
NC_000017.10:g.71189412G>C , CM000679.1:g.71189412G>C | GRCh37 |
NC_000017.9:g.68701007G>C | NCBI36 |
NG_008971.1:g.5240G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.204G>C MANE Select | ENSP00000299886.4:p.Gln68His | |
ENST00000299886.8:c.204G>C | ENSP00000299886.4:p.Gln68His | |
ENST00000438720.7:c.202G>C | ||
ENST00000582587.2:c.181G>C | ||
ENST00000618996.4:c.204G>C | ENSP00000479450.1:p.Gln68His | |
NM_018714.2:c.204G>C | NP_061184.1:p.Gln68His | |
NM_018714.3:c.204G>C MANE Select | NP_061184.1:p.Gln68His |