HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119669963T>C , CM000672.2:g.119669963T>C | GRCh38 |
NC_000010.10:g.121429475T>C , CM000672.1:g.121429475T>C | GRCh37 |
NC_000010.9:g.121419465T>C | NCBI36 |
NG_016125.1:g.23594T>C , LRG_742:g.23594T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.293T>C MANE Select | ENSP00000358081.4:p.Val98Ala | |
ENST00000369085.7:c.293T>C | ENSP00000358081.3:p.Val98Ala | |
ENST00000450186.1:c.119T>C | ENSP00000410036.1:p.Val40Ala | |
NM_004281.3:c.293T>C , LRG_742t1:c.293T>C | NP_004272.2:p.Val98Ala | |
XM_005270287.1:c.293T>C | XP_005270344.1:p.Val98Ala | |
XM_005270287.2:c.293T>C | XP_005270344.1:p.Val98Ala | |
NM_004281.4:c.293T>C MANE Select | NP_004272.2:p.Val98Ala |