HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114796339A>G , CM000671.2:g.114796339A>G | GRCh38 |
NC_000009.11:g.117558619A>G , CM000671.1:g.117558619A>G | GRCh37 |
NC_000009.10:g.116598440A>G | NCBI36 |
NG_011488.2:g.14790T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374045.5:c.211-2771T>C MANE Select | ENSP00000363157.3:n.211-2771T>C | |
ENST00000374045.4:c.211-2771T>C | ENSP00000363157.3:n.211-2771T>C | |
NM_005118.3:c.211-2771T>C | NP_005109.2:n.211-2771T>C | |
NM_005118.4:c.211-2771T>C MANE Select | NP_005109.2:n.211-2771T>C |