HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523840G>C , CM000664.2:g.232523840G>C | GRCh38 |
NC_000002.11:g.233388550G>C , CM000664.1:g.233388550G>C | GRCh37 |
NC_000002.10:g.233096794G>C | NCBI36 |
NG_008028.1:g.2629G>C | |
NG_031969.1:g.8378G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1081G>C MANE Select | ENSP00000479745.1:p.Asp361His | |
ENST00000449534.6:c.1084G>C | ENSP00000473410.1:p.Asp362His | |
ENST00000617714.1:c.1081G>C | ENSP00000479745.1:p.Asp361His | |
NM_001195129.1:c.1081G>C | NP_001182058.1:p.Asp361His | |
NM_001195129.2:c.1081G>C MANE Select | NP_001182058.1:p.Asp361His | |
NM_001369848.1:c.1084G>C | NP_001356777.1:p.Asp362His |