HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6686080A>G , CM000681.2:g.6686080A>G | GRCh38 |
NC_000019.9:g.6686091A>G , CM000681.1:g.6686091A>G | GRCh37 |
NC_000019.8:g.6637091A>G | NCBI36 |
NG_009557.1:g.39572T>C , LRG_27:g.39572T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695651.1:n.2158+44T>C | ||
ENST00000695653.1:c.1719+44T>C | ENSP00000512084.1:n.1719+44T>C | |
ENST00000695654.1:c.2835+44T>C | ENSP00000512085.1:n.2835+44T>C | |
ENST00000245907.11:c.3810+44T>C MANE Select | ENSP00000245907.4:n.3810+44T>C | |
ENST00000245907.10:c.3810+44T>C | ENSP00000245907.4:n.3810+44T>C | |
ENST00000596238.1:n.253+44T>C | ||
ENST00000601008.1:c.241+666T>C | ENSP00000471384.1:n.241+666T>C | |
NM_000064.3:c.3810+44T>C | NP_000055.2:n.3810+44T>C | |
NM_000064.4:c.3810+44T>C MANE Select | NP_000055.2:n.3810+44T>C |