HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218881810T>C , CM000664.2:g.218881810T>C | GRCh38 |
NC_000002.11:g.219746532T>C , CM000664.1:g.219746532T>C | GRCh37 |
NC_000002.10:g.219454776T>C | NCBI36 |
NG_012179.1:g.6278T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.114-351T>C MANE Select | ENSP00000258411.3:n.114-351T>C | |
ENST00000258411.7:c.114-351T>C | ENSP00000258411.3:n.114-351T>C | |
NM_025216.2:c.114-351T>C | NP_079492.2:n.114-351T>C | |
XM_011511928.1:c.62+343T>C | XP_011510230.1:n.62+343T>C | |
XM_011511929.1:c.18-351T>C | XP_011510231.1:n.18-351T>C | |
XM_011511930.1:c.114-351T>C | XP_011510232.1:n.114-351T>C | |
XM_011511929.2:c.18-351T>C | XP_011510231.1:n.18-351T>C | |
NM_025216.3:c.114-351T>C MANE Select | NP_079492.2:n.114-351T>C |