HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114796495T>C , CM000671.2:g.114796495T>C | GRCh38 |
NC_000009.11:g.117558775T>C , CM000671.1:g.117558775T>C | GRCh37 |
NC_000009.10:g.116598596T>C | NCBI36 |
NG_011488.2:g.14634A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.211-2927A>G MANE Select | ENSP00000363157.3:n.211-2927A>G | |
ENST00000374045.4:c.211-2927A>G | ENSP00000363157.3:n.211-2927A>G | |
NM_005118.3:c.211-2927A>G | NP_005109.2:n.211-2927A>G | |
NM_005118.4:c.211-2927A>G MANE Select | NP_005109.2:n.211-2927A>G |