HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719425G>C , CM000667.2:g.71719425G>C | GRCh38 |
NC_000005.9:g.71015252G>C , CM000667.1:g.71015252G>C | GRCh37 |
NC_000005.8:g.71051008G>C | NCBI36 |
NG_015988.1:g.5263G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.132G>C MANE Select | ENSP00000296777.4:p.Val44= | |
ENST00000296777.4:c.132G>C | ENSP00000296777.4:p.Val44= | |
NM_004291.3:c.132G>C | NP_004282.1:p.Val44= | |
NM_004291.4:c.132G>C MANE Select | NP_004282.1:p.Val44= |