HGVS | Genome Assembly |
---|---|
NC_000002.12:g.167954976A>C , CM000664.2:g.167954976A>C | GRCh38 |
NC_000002.11:g.168811486A>C , CM000664.1:g.168811486A>C | GRCh37 |
NC_000002.10:g.168519732A>C | NCBI36 |
NG_052783.1:g.297620T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697205.1:c.2095T>G | ENSP00000513185.1:n.2095T>G | |
ENST00000355999.5:c.*520T>G MANE Select | ENSP00000348278.4:n.*520T>G | |
ENST00000355999.4:c.*520T>G | ENSP00000348278.4:n.*520T>G | |
ENST00000487143.5:n.1258T>G | ||
NM_013233.2:c.*520T>G | NP_037365.2:n.*520T>G | |
XM_005246465.2:c.*520T>G | XP_005246522.1:n.*520T>G | |
XM_011510966.1:c.*520T>G | XP_011509268.1:n.*520T>G | |
XM_011510967.1:c.*520T>G | XP_011509269.1:n.*520T>G | |
NM_013233.3:c.*520T>G MANE Select | NP_037365.2:n.*520T>G |