HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149980831A>C , CM000667.2:g.149980831A>C | GRCh38 |
NC_000005.9:g.149360394A>C , CM000667.1:g.149360394A>C | GRCh37 |
NC_000005.8:g.149340587A>C | NCBI36 |
NG_007147.2:g.21949A>C , LRG_684:g.21949A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286298.5:c.1238A>C MANE Select | ENSP00000286298.4:p.Lys413Thr | |
ENST00000286298.4:c.1238A>C | ENSP00000286298.4:p.Lys413Thr | |
ENST00000503336.1:c.372+2480A>C | ENSP00000426053.1:n.372+2480A>C | |
NM_000112.3:c.1238A>C , LRG_684t1:c.1238A>C | NP_000103.2:p.Lys413Thr | |
XM_017009191.2:c.1238A>C | XP_016864680.1:p.Lys413Thr | |
NM_000112.4:c.1238A>C MANE Select | NP_000103.2:p.Lys413Thr |