HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594748G>C , CM000679.2:g.56594748G>C | GRCh38 |
NC_000017.10:g.54672109G>C , CM000679.1:g.54672109G>C | GRCh37 |
NC_000017.9:g.52027108G>C | NCBI36 |
NG_011958.1:g.6050G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.525G>C MANE Select | ENSP00000328181.4:p.Val175= | |
ENST00000332822.4:c.525G>C | ENSP00000328181.4:p.Val175= | |
NM_005450.4:c.525G>C | NP_005441.1:p.Val175= | |
NM_005450.6:c.525G>C MANE Select | NP_005441.1:p.Val175= |