HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478703A>G , CM000670.2:g.81478703A>G | GRCh38 |
NC_000008.10:g.82390938A>G , CM000670.1:g.82390938A>G | GRCh37 |
NC_000008.9:g.82553493A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*162T>C MANE Select | ENSP00000256104.4:n.*162T>C | |
ENST00000256104.4:c.*162T>C | ENSP00000256104.4:n.*162T>C | |
ENST00000518669.5:n.496T>C | ||
ENST00000522659.1:c.*437T>C | ENSP00000428385.1:n.*437T>C | |
NM_001442.2:c.*162T>C | NP_001433.1:n.*162T>C | |
XR_001745980.1:n.514+16729A>G | ||
NM_001442.3:c.*162T>C MANE Select | NP_001433.1:n.*162T>C |