HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6167511C>A , CM000668.2:g.6167511C>A | GRCh38 |
NC_000006.11:g.6167744C>A , CM000668.1:g.6167744C>A | GRCh37 |
NC_000006.10:g.6112743C>A | NCBI36 |
NG_008107.1:g.158181G>T , LRG_549:g.158181G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264870.8:c.1855G>T MANE Select | ENSP00000264870.3:p.Val619Phe | |
ENST00000264870.7:c.1855G>T | ENSP00000264870.3:p.Val619Phe | |
NM_000129.3:c.1855G>T , LRG_549t1:c.1855G>T | NP_000120.2:p.Val619Phe | |
XM_006715010.2:c.1855G>T | XP_006715073.1:p.Val619Phe | |
XM_011514342.1:c.2017G>T | XP_011512644.1:p.Val673Phe | |
NM_000129.4:c.1855G>T MANE Select | NP_000120.2:p.Val619Phe |