HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114814G>C , CM000667.2:g.140114814G>C | GRCh38 |
NC_000005.9:g.139494399G>C , CM000667.1:g.139494399G>C | GRCh37 |
NC_000005.8:g.139474583G>C | NCBI36 |
NG_041813.1:g.5692G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.633G>C MANE Select | ENSP00000332706.3:p.Val211= | |
ENST00000651386.1:c.633G>C | ENSP00000499133.1:p.Val211= | |
ENST00000331327.4:c.633G>C | ENSP00000332706.3:p.Val211= | |
NM_005859.4:c.633G>C | NP_005850.1:p.Val211= | |
NM_005859.5:c.633G>C MANE Select | NP_005850.1:p.Val211= |