HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827574T>C , CM000667.2:g.148827574T>C | GRCh38 |
NC_000005.9:g.148207137T>C , CM000667.1:g.148207137T>C | GRCh37 |
NC_000005.8:g.148187330T>C | NCBI36 |
NG_016421.1:g.5982T>C | |
NG_016421.2:g.5982T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.743T>C MANE Select | ENSP00000305372.4:p.Val248Ala | |
ENST00000305988.5:c.743T>C | ENSP00000305372.4:p.Val248Ala | |
NM_000024.5:c.743T>C | NP_000015.1:p.Val248Ala | |
NM_000024.6:c.743T>C MANE Select | NP_000015.2:p.Val248Ala |