HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107767682A= , CM000669.2:g.107767682A= | GRCh38 |
NC_000007.13:g.107408127A= , CM000669.1:g.107408127A= | GRCh37 |
NC_000007.12:g.107195363A= | NCBI36 |
NG_008046.1:g.40552T= , LRG_683:g.40552T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.2206-38T= MANE Select | ENSP00000345873.5:n.2206-38T= | |
ENST00000340010.9:c.2206-38T= | ENSP00000345873.5:n.2206-38T= | |
ENST00000379083.7:c.*1763-38T= | ENSP00000368375.3:n.*1763-38T= | |
NM_000111.2:c.2206-38T= , LRG_683t1:c.2206-38T= | NP_000102.1:n.2206-38T= | |
XM_011515867.1:c.2206-38T= | XP_011514169.1:n.2206-38T= | |
NM_000111.3:c.2206-38T= MANE Select | NP_000102.1:n.2206-38T= |