HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256082G>C , CM000679.2:g.34256082G>C | GRCh38 |
NC_000017.10:g.32583101G>C , CM000679.1:g.32583101G>C | GRCh37 |
NC_000017.9:g.29607214G>C | NCBI36 |
NG_012123.1:g.5806G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.77-140G>C | ENSP00000462156.1:n.77-140G>C | |
ENST00000624362.2:n.798G>C | ||
ENST00000225831.4:c.77-140G>C MANE Select | ENSP00000225831.4:n.77-140G>C | |
ENST00000580907.5:c.77-140G>C | ENSP00000462156.1:n.77-140G>C | |
ENST00000624362.1:n.865G>C | ||
NM_002982.3:c.77-140G>C | NP_002973.1:n.77-140G>C | |
NM_002982.4:c.77-140G>C MANE Select | NP_002973.1:n.77-140G>C |