HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31820082G>C , CM000682.2:g.31820082G>C | GRCh38 |
NC_000020.10:g.30407885G>C , CM000682.1:g.30407885G>C | GRCh37 |
NC_000020.9:g.29871546G>C | NCBI36 |
NG_012847.1:g.5708G>C , LRG_392:g.5708G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375985.5:c.53-44G>C MANE Select | ENSP00000365152.4:n.53-44G>C | |
ENST00000375985.4:c.53-44G>C | ENSP00000365152.4:n.53-44G>C | |
ENST00000375994.6:c.53-44G>C | ENSP00000365162.2:n.53-44G>C | |
NM_033118.3:c.53-44G>C , LRG_392t1:c.53-44G>C | NP_149109.1:n.53-44G>C | |
XR_244155.1:n.218-44G>C | ||
NM_033118.4:c.53-44G>C MANE Select | NP_149109.1:n.53-44G>C |