HGVS | Genome Assembly |
---|---|
NC_000002.12:g.167954906T>G , CM000664.2:g.167954906T>G | GRCh38 |
NC_000002.11:g.168811416T>G , CM000664.1:g.168811416T>G | GRCh37 |
NC_000002.10:g.168519662T>G | NCBI36 |
NG_052783.1:g.297690A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697205.1:c.2165A>C | ENSP00000513185.1:n.2165A>C | |
ENST00000355999.5:c.*590A>C MANE Select | ENSP00000348278.4:n.*590A>C | |
ENST00000355999.4:c.*590A>C | ENSP00000348278.4:n.*590A>C | |
ENST00000487143.5:n.1328A>C | ||
NM_013233.2:c.*590A>C | NP_037365.2:n.*590A>C | |
XM_005246465.2:c.*590A>C | XP_005246522.1:n.*590A>C | |
XM_011510966.1:c.*590A>C | XP_011509268.1:n.*590A>C | |
XM_011510967.1:c.*590A>C | XP_011509269.1:n.*590A>C | |
NM_013233.3:c.*590A>C MANE Select | NP_037365.2:n.*590A>C |