HGVS | Genome Assembly |
---|---|
NC_000002.12:g.102532512A>C , CM000664.2:g.102532512A>C | GRCh38 |
NC_000002.11:g.103148971A>C , CM000664.1:g.103148971A>C | GRCh37 |
NC_000002.10:g.102515403A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295269.5:c.2221A>C MANE Select | ENSP00000295269.4:p.Arg741= | |
ENST00000295269.4:c.2221A>C | ENSP00000295269.4:p.Arg741= | |
NM_001011552.3:c.2221A>C | NP_001011552.2:p.Arg741= | |
XM_011511158.1:c.2134A>C | XP_011509460.1:p.Arg712= | |
NM_001011552.4:c.2221A>C MANE Select | NP_001011552.2:p.Arg741= |