HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48703627A>C , CM000681.2:g.48703627A>C | GRCh38 |
NC_000019.9:g.49206884A>C , CM000681.1:g.49206884A>C | GRCh37 |
NC_000019.8:g.53898696A>C | NCBI36 |
NG_007511.1:g.12657A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000425340.3:c.671A>C MANE Select | ENSP00000387498.2:p.Gln224Pro | |
ENST00000522966.2:c.671A>C | ENSP00000430227.2:p.Gln224Pro | |
ENST00000391876.5:c.671A>C | ENSP00000375748.4:p.Gln224Pro | |
ENST00000425340.2:c.671A>C | ENSP00000387498.2:p.Gln224Pro | |
NM_000511.5:c.671A>C | NP_000502.4:p.Gln224Pro | |
NM_001097638.2:c.671A>C | NP_001091107.1:p.Gln224Pro | |
NR_131188.1:n.222T>G | ||
NM_000511.6:c.671A>C MANE Select | NP_000502.4:p.Gln224Pro | |
NM_001097638.3:c.671A>C | NP_001091107.1:p.Gln224Pro |