HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38370228G>C , CM000685.2:g.38370228G>C | GRCh38 |
NC_000023.10:g.38229481G>C , CM000685.1:g.38229481G>C | GRCh37 |
NC_000023.9:g.38114425G>C | NCBI36 |
NG_008471.1:g.22746G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.298+351G>C MANE Select | ENSP00000039007.4:n.298+351G>C | |
ENST00000643344.1:c.298+351G>C | ENSP00000496606.1:n.298+351G>C | |
ENST00000039007.4:c.298+351G>C | ENSP00000039007.4:n.298+351G>C | |
ENST00000465127.1:c.172-295893G>C | ENSP00000417050.1:n.172-295893G>C | |
ENST00000488812.1:n.353+388G>C | ||
NM_000531.5:c.298+351G>C | NP_000522.3:n.298+351G>C | |
XM_017029556.1:c.298+351G>C | XP_016885045.1:n.298+351G>C | |
NM_000531.6:c.298+351G>C MANE Select | NP_000522.3:n.298+351G>C |