HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794612C>G , CM000671.2:g.77794612C>G | GRCh38 |
NC_000009.11:g.80409528C>G , CM000671.1:g.80409528C>G | GRCh37 |
NC_000009.10:g.79599348C>G | NCBI36 |
NG_027904.2:g.241692G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.606-20G>C MANE Select | ENSP00000286548.4:n.606-20G>C | |
ENST00000286548.8:c.606-20G>C | ENSP00000286548.4:n.606-20G>C | |
NM_002072.4:c.606-20G>C | NP_002063.2:n.606-20G>C | |
XM_017014628.2:c.432-20G>C | XP_016870117.1:n.432-20G>C | |
NM_002072.5:c.606-20G>C MANE Select | NP_002063.2:n.606-20G>C |