HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117807451A= , CM000670.2:g.117807451A= | GRCh38 |
NC_000008.10:g.118819690A= , CM000670.1:g.118819690A= | GRCh37 |
NC_000008.9:g.118888871A= | NCBI36 |
NG_007455.2:g.309369T= , LRG_493:g.309369T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.1190-74T= | ||
ENST00000378204.7:c.1723-74T= MANE Select | ENSP00000367446.3:n.1723-74T= | |
ENST00000378204.6:c.1723-74T= | ENSP00000367446.2:n.1723-74T= | |
ENST00000437196.1:c.*614-74T= | ENSP00000407299.1:n.*614-74T= | |
NM_000127.2:c.1723-74T= , LRG_493t1:c.1723-74T= | NP_000118.2:n.1723-74T= | |
NM_000127.3:c.1723-74T= MANE Select | NP_000118.2:n.1723-74T= |