HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114804160A>G , CM000671.2:g.114804160A>G | GRCh38 |
NC_000009.11:g.117566440A>G , CM000671.1:g.117566440A>G | GRCh37 |
NC_000009.10:g.116606261A>G | NCBI36 |
NG_011488.2:g.6969T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.210+1643T>C MANE Select | ENSP00000363157.3:n.210+1643T>C | |
ENST00000374045.4:c.210+1643T>C | ENSP00000363157.3:n.210+1643T>C | |
NM_005118.3:c.210+1643T>C | NP_005109.2:n.210+1643T>C | |
NM_005118.4:c.210+1643T>C MANE Select | NP_005109.2:n.210+1643T>C |