HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835202A>G , CM000670.2:g.117835202A>G | GRCh38 |
NC_000008.10:g.118847441A>G , CM000670.1:g.118847441A>G | GRCh37 |
NC_000008.9:g.118916622A>G | NCBI36 |
NG_007455.2:g.281618T>C , LRG_493:g.281618T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.631+242T>C | ||
ENST00000378204.7:c.1164+242T>C MANE Select | ENSP00000367446.3:n.1164+242T>C | |
ENST00000436216.2:c.532+242T>C | ||
ENST00000378204.6:c.1164+242T>C | ENSP00000367446.2:n.1164+242T>C | |
ENST00000436216.1:c.532+242T>C | ||
ENST00000437196.1:c.*55+242T>C | ENSP00000407299.1:n.*55+242T>C | |
NM_000127.2:c.1164+242T>C , LRG_493t1:c.1164+242T>C | NP_000118.2:n.1164+242T>C | |
NM_000127.3:c.1164+242T>C MANE Select | NP_000118.2:n.1164+242T>C |