HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833987A>C , CM000686.2:g.12833987A>C | GRCh38 |
NC_000024.9:g.14945913A>C , CM000686.1:g.14945913A>C | GRCh37 |
NC_000024.8:g.13455307A>C | NCBI36 |
NG_008311.1:g.137754A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5195+126A>C | ENSP00000498372.1:n.5195+126A>C | |
ENST00000338981.7:c.5195+126A>C MANE Select | ENSP00000342812.3:n.5195+126A>C | |
ENST00000426564.6:n.5207+126A>C | ||
NM_004654.3:c.5195+126A>C | NP_004645.2:n.5195+126A>C | |
XM_011531469.1:c.5195+126A>C | XP_011529771.1:n.5195+126A>C | |
XM_011531470.1:c.4961+126A>C | XP_011529772.1:n.4961+126A>C | |
XM_017030078.2:c.5210+126A>C | XP_016885567.1:n.5210+126A>C | |
NM_004654.4:c.5195+126A>C MANE Select | NP_004645.2:n.5195+126A>C |