HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256470_34256471dup , CM000679.2:g.34256470_34256471dup | GRCh38 |
NC_000017.10:g.32583489_32583490dup , CM000679.1:g.32583489_32583490dup | GRCh37 |
NC_000017.9:g.29607602_29607603dup | NCBI36 |
NG_012123.1:g.6194_6195dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.*127_*128dup | ENSP00000462156.1:n.*127_*128dup | |
ENST00000624362.2:n.1186_1187dup | ||
ENST00000225831.4:c.194+131_194+132dup MANE Select | ENSP00000225831.4:n.194+131_194+132dup | |
ENST00000580907.5:c.*127_*128dup | ENSP00000462156.1:n.*127_*128dup | |
ENST00000582017.1:n.263_264dup | ||
NM_002982.3:c.194+131_194+132dup | NP_002973.1:n.194+131_194+132dup | |
NM_002982.4:c.194+131_194+132dup MANE Select | NP_002973.1:n.194+131_194+132dup |