HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114796309C>A , CM000671.2:g.114796309C>A | GRCh38 |
NC_000009.11:g.117558589C>A , CM000671.1:g.117558589C>A | GRCh37 |
NC_000009.10:g.116598410C>A | NCBI36 |
NG_011488.2:g.14820G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.211-2741G>T MANE Select | ENSP00000363157.3:n.211-2741G>T | |
ENST00000374045.4:c.211-2741G>T | ENSP00000363157.3:n.211-2741G>T | |
NM_005118.3:c.211-2741G>T | NP_005109.2:n.211-2741G>T | |
NM_005118.4:c.211-2741G>T MANE Select | NP_005109.2:n.211-2741G>T |