HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30786201T>G , CM000670.2:g.30786201T>G | GRCh38 |
NC_000008.10:g.30643717T>G , CM000670.1:g.30643717T>G | GRCh37 |
NC_000008.9:g.30763259T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221138.9:c.*34A>C MANE Select | ENSP00000221138.4:n.*34A>C | |
ENST00000221138.8:c.*34A>C | ENSP00000221138.4:n.*34A>C | |
ENST00000518532.1:n.474A>C | ||
ENST00000518564.1:c.142-212A>C | ENSP00000428142.1:n.142-212A>C | |
ENST00000522113.1:n.164A>C | ||
ENST00000523023.1:c.181+10A>C | ||
NM_001009552.1:c.*34A>C | NP_001009552.1:n.*34A>C | |
NM_001009552.2:c.*34A>C MANE Select | NP_001009552.1:n.*34A>C |