HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667171A>C , CM000683.2:g.31667171A>C | GRCh38 |
NC_000021.8:g.33039484A>C , CM000683.1:g.33039484A>C | GRCh37 |
NC_000021.7:g.31961355A>C | NCBI36 |
NG_008689.1:g.12550A>C , LRG_652:g.12550A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.240-87A>C MANE Select | ENSP00000270142.7:n.240-87A>C | |
ENST00000270142.10:c.240-87A>C | ENSP00000270142.6:n.240-87A>C | |
ENST00000389995.4:c.183-87A>C | ENSP00000374645.4:n.183-87A>C | |
ENST00000470944.1:n.1168-87A>C | ||
ENST00000476106.5:n.503-87A>C | ||
NM_000454.4:c.240-87A>C , LRG_652t1:c.240-87A>C | NP_000445.1:n.240-87A>C | |
NM_000454.5:c.240-87A>C MANE Select | NP_000445.1:n.240-87A>C |