HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24174817T>C , CM000668.2:g.24174817T>C | GRCh38 |
NC_000006.11:g.24175045T>C , CM000668.1:g.24175045T>C | GRCh37 |
NC_000006.10:g.24283024T>C | NCBI36 |
NG_012829.1:g.188236A>G | |
NG_012829.2:g.213476A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1344A>G MANE Select | ENSP00000367715.3:p.Gln448= | |
ENST00000378450.6:c.603A>G | ENSP00000367711.3:p.Gln201= | |
ENST00000378454.7:c.1344A>G | ENSP00000367715.3:p.Gln448= | |
NM_001195610.1:c.1344A>G | NP_001182539.1:p.Gln448= | |
NM_016356.4:c.1344A>G | NP_057440.2:p.Gln448= | |
NM_016356.5:c.1344A>G MANE Select | NP_057440.2:p.Gln448= | |
NM_001195610.2:c.1344A>G | NP_001182539.1:p.Gln448= |