HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48485340T= , CM000677.2:g.48485340T= | GRCh38 |
NC_000015.9:g.48777537T= , CM000677.1:g.48777537T= | GRCh37 |
NC_000015.8:g.46564829T= | NCBI36 |
NG_008805.2:g.165449A= , LRG_778:g.165449A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.3712+34A= | ENSP00000453958.2:n.3712+34A= | |
ENST00000674301.2:c.3712+34A= | ENSP00000501333.2:n.3712+34A= | |
ENST00000684448.1:n.2386+34A= | ||
ENST00000316623.10:c.3712+34A= MANE Select | ENSP00000325527.5:n.3712+34A= | |
ENST00000316623.9:c.3712+34A= | ENSP00000325527.5:n.3712+34A= | |
ENST00000537463.6:c.637-10690A= | ENSP00000440294.2:n.637-10690A= | |
NM_000138.4:c.3712+34A= , LRG_778t1:c.3712+34A= | NP_000129.3:n.3712+34A= | |
NM_000138.5:c.3712+34A= MANE Select | NP_000129.3:n.3712+34A= |