HGVS | Genome Assembly |
---|---|
NC_000002.12:g.167954903C>A , CM000664.2:g.167954903C>A | GRCh38 |
NC_000002.11:g.168811413C>A , CM000664.1:g.168811413C>A | GRCh37 |
NC_000002.10:g.168519659C>A | NCBI36 |
NG_052783.1:g.297693G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697205.1:c.2168G>T | ENSP00000513185.1:n.2168G>T | |
ENST00000355999.5:c.*593G>T MANE Select | ENSP00000348278.4:n.*593G>T | |
ENST00000355999.4:c.*593G>T | ENSP00000348278.4:n.*593G>T | |
ENST00000487143.5:n.1331G>T | ||
NM_013233.2:c.*593G>T | NP_037365.2:n.*593G>T | |
XM_005246465.2:c.*593G>T | XP_005246522.1:n.*593G>T | |
XM_011510966.1:c.*593G>T | XP_011509268.1:n.*593G>T | |
XM_011510967.1:c.*593G>T | XP_011509269.1:n.*593G>T | |
NM_013233.3:c.*593G>T MANE Select | NP_037365.2:n.*593G>T |