HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6685214A>G , CM000681.2:g.6685214A>G | GRCh38 |
NC_000019.9:g.6685225A>G , CM000681.1:g.6685225A>G | GRCh37 |
NC_000019.8:g.6636225A>G | NCBI36 |
NG_009557.1:g.40438T>C , LRG_27:g.40438T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695651.1:n.2159-68T>C | ||
ENST00000695653.1:c.1720-68T>C | ENSP00000512084.1:n.1720-68T>C | |
ENST00000695654.1:c.2836-68T>C | ENSP00000512085.1:n.2836-68T>C | |
ENST00000245907.11:c.3811-68T>C MANE Select | ENSP00000245907.4:n.3811-68T>C | |
ENST00000245907.10:c.3811-68T>C | ENSP00000245907.4:n.3811-68T>C | |
ENST00000596238.1:n.254-68T>C | ||
ENST00000601008.1:c.241+1532T>C | ENSP00000471384.1:n.241+1532T>C | |
NM_000064.3:c.3811-68T>C | NP_000055.2:n.3811-68T>C | |
NM_000064.4:c.3811-68T>C MANE Select | NP_000055.2:n.3811-68T>C |