HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6288009A>T , CM000668.2:g.6288009A>T | GRCh38 |
NC_000006.11:g.6288242A>T , CM000668.1:g.6288242A>T | GRCh37 |
NC_000006.10:g.6233241A>T | NCBI36 |
NG_008107.1:g.37683T>A , LRG_549:g.37683T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.319+17342T>A MANE Select | ENSP00000264870.3:n.319+17342T>A | |
ENST00000264870.7:c.319+17342T>A | ENSP00000264870.3:n.319+17342T>A | |
ENST00000414279.5:c.319+17342T>A | ENSP00000413334.1:n.319+17342T>A | |
ENST00000431222.6:c.481+17342T>A | ENSP00000416295.2:n.481+17342T>A | |
ENST00000479211.1:n.304+17342T>A | ||
NM_000129.3:c.319+17342T>A , LRG_549t1:c.319+17342T>A | NP_000120.2:n.319+17342T>A | |
XM_006715010.2:c.319+17342T>A | XP_006715073.1:n.319+17342T>A | |
XM_011514342.1:c.481+17342T>A | XP_011512644.1:n.481+17342T>A | |
NM_000129.4:c.319+17342T>A MANE Select | NP_000120.2:n.319+17342T>A |