HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117820012C>G , CM000670.2:g.117820012C>G | GRCh38 |
NC_000008.10:g.118832251C>G , CM000670.1:g.118832251C>G | GRCh37 |
NC_000008.9:g.118901432C>G | NCBI36 |
NG_007455.2:g.296808G>C , LRG_493:g.296808G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.885-218G>C | ||
ENST00000378204.7:c.1418-218G>C MANE Select | ENSP00000367446.3:n.1418-218G>C | |
ENST00000378204.6:c.1418-218G>C | ENSP00000367446.2:n.1418-218G>C | |
ENST00000437196.1:c.*309-218G>C | ENSP00000407299.1:n.*309-218G>C | |
NM_000127.2:c.1418-218G>C , LRG_493t1:c.1418-218G>C | NP_000118.2:n.1418-218G>C | |
NM_000127.3:c.1418-218G>C MANE Select | NP_000118.2:n.1418-218G>C |