HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459445G>C , CM000668.2:g.49459445G>C | GRCh38 |
NC_000006.11:g.49427158G>C , CM000668.1:g.49427158G>C | GRCh37 |
NC_000006.10:g.49535117G>C | NCBI36 |
NG_007100.1:g.8695C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.22C>G MANE Select | ENSP00000274813.3:p.Leu8Val | |
ENST00000274813.3:c.22C>G | ENSP00000274813.3:p.Leu8Val | |
NM_000255.3:c.22C>G | NP_000246.2:p.Leu8Val | |
XM_005249143.2:c.22C>G | XP_005249200.1:p.Leu8Val | |
XM_005249143.3:c.22C>G | XP_005249200.1:p.Leu8Val | |
NM_000255.4:c.22C>G MANE Select | NP_000246.2:p.Leu8Val |