HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978346T>G , CM000667.2:g.149978346T>G | GRCh38 |
NC_000005.9:g.149357909T>G , CM000667.1:g.149357909T>G | GRCh37 |
NC_000005.8:g.149338102T>G | NCBI36 |
NG_007147.2:g.19464T>G , LRG_684:g.19464T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.926T>G | ||
ENST00000286298.5:c.694T>G MANE Select | ENSP00000286298.4:p.Tyr232Asp | |
ENST00000286298.4:c.694T>G | ENSP00000286298.4:p.Tyr232Asp | |
ENST00000503336.1:c.367T>G | ENSP00000426053.1:p.Tyr123Asp | |
NM_000112.3:c.694T>G , LRG_684t1:c.694T>G | NP_000103.2:p.Tyr232Asp | |
XM_017009191.2:c.694T>G | XP_016864680.1:p.Tyr232Asp | |
NM_000112.4:c.694T>G MANE Select | NP_000103.2:p.Tyr232Asp |