HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4372530T>C , CM000674.2:g.4372530T>C | GRCh38 |
NC_000012.11:g.4481696T>C , CM000674.1:g.4481696T>C | GRCh37 |
NC_000012.10:g.4351957T>C | NCBI36 |
NG_007087.1:g.12199A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237837.2:c.315+64A>G MANE Select | ENSP00000237837.1:n.315+64A>G | |
ENST00000648100.1:c.*1967+6248T>C | ENSP00000497536.1:n.*1967+6248T>C | |
ENST00000648269.1:n.1815+64A>G | ||
ENST00000674624.1:c.*1204+6248T>C | ENSP00000501898.1:n.*1204+6248T>C | |
ENST00000237837.1:c.315+64A>G | ENSP00000237837.1:n.315+64A>G | |
NM_020638.2:c.315+64A>G | NP_065689.1:n.315+64A>G | |
NM_020638.3:c.315+64A>G MANE Select | NP_065689.1:n.315+64A>G |