HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114796327C>T , CM000671.2:g.114796327C>T | GRCh38 |
NC_000009.11:g.117558607C>T , CM000671.1:g.117558607C>T | GRCh37 |
NC_000009.10:g.116598428C>T | NCBI36 |
NG_011488.2:g.14802G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374045.5:c.211-2759G>A MANE Select | ENSP00000363157.3:n.211-2759G>A | |
ENST00000374045.4:c.211-2759G>A | ENSP00000363157.3:n.211-2759G>A | |
NM_005118.3:c.211-2759G>A | NP_005109.2:n.211-2759G>A | |
NM_005118.4:c.211-2759G>A MANE Select | NP_005109.2:n.211-2759G>A |