HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135943334C>A , CM000664.2:g.135943334C>A | GRCh38 |
NC_000002.11:g.136700904C>A , CM000664.1:g.136700904C>A | GRCh37 |
NC_000002.10:g.136417374C>A | NCBI36 |
NG_034149.1:g.47351G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264161.9:c.423+44G>T MANE Select | ENSP00000264161.4:n.423+44G>T | |
ENST00000264161.8:c.423+44G>T | ENSP00000264161.4:n.423+44G>T | |
ENST00000435076.1:c.562G>T | ||
ENST00000441323.5:c.324+44G>T | ENSP00000389867.1:n.324+44G>T | |
ENST00000449218.5:c.324+44G>T | ENSP00000388801.1:n.324+44G>T | |
ENST00000456565.5:c.324+44G>T | ENSP00000397616.1:n.324+44G>T | |
NM_001293312.1:c.123+44G>T | NP_001280241.1:n.123+44G>T | |
NM_001349.3:c.423+44G>T | NP_001340.2:n.423+44G>T | |
NM_001349.4:c.423+44G>T MANE Select | NP_001340.2:n.423+44G>T |