HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814359C>G , CM000668.2:g.32814359C>G | GRCh38 |
NC_000006.11:g.32782136C>G , CM000668.1:g.32782136C>G | GRCh37 |
NC_000006.10:g.32890114C>G | NCBI36 |
NG_009793.3:g.29412G>C | |
NG_012008.1:g.7690G>C | |
NG_009793.4:g.29412G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.604G>C MANE Select | ENSP00000390020.2:p.Asp202His | |
ENST00000648009.1:c.604G>C | ENSP00000496848.1:p.Asp202His | |
ENST00000438763.6:c.604G>C | ENSP00000390020.2:p.Asp202His | |
ENST00000452392.2:c.2425G>C | ENSP00000391806.2:p.Asp809His | |
ENST00000475235.1:n.641G>C | ||
ENST00000488325.5:c.*375G>C | ENSP00000436618.1:n.*375G>C | |
NM_002120.3:c.604G>C | NP_002111.1:p.Asp202His | |
NM_002120.4:c.604G>C MANE Select | NP_002111.1:p.Asp202His |