HGVS | Genome Assembly |
---|---|
NC_000005.10:g.107647007A>G , CM000667.2:g.107647007A>G | GRCh38 |
NC_000005.9:g.106982708A>G , CM000667.1:g.106982708A>G | GRCh37 |
NC_000005.8:g.107010607A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333274.11:c.125+23482T>C MANE Select | ENSP00000328777.6:n.125+23482T>C | |
ENST00000333274.10:c.125+23482T>C | ENSP00000328777.6:n.125+23482T>C | |
ENST00000504941.1:n.397+23482T>C | ||
ENST00000509503.1:c.125+23482T>C | ENSP00000426989.1:n.125+23482T>C | |
NM_001962.2:c.125+23482T>C | NP_001953.1:n.125+23482T>C | |
XM_006714565.1:c.125+23482T>C | XP_006714628.1:n.125+23482T>C | |
XM_006714565.3:c.125+23482T>C | XP_006714628.1:n.125+23482T>C | |
NM_001962.3:c.125+23482T>C MANE Select | NP_001953.1:n.125+23482T>C |