HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966084T>C , CM000685.2:g.154966084T>C | GRCh38 |
NC_000023.10:g.154194359T>C , CM000685.1:g.154194359T>C | GRCh37 |
NC_000023.9:g.153847553T>C | NCBI36 |
NG_011403.1:g.61640A>G | |
NG_011403.2:g.61640A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1329A>G MANE Select | ENSP00000353393.4:p.Lys443= | |
ENST00000647125.1:c.*1205A>G | ENSP00000496062.1:n.*1205A>G | |
ENST00000360256.8:c.1329A>G | ENSP00000353393.4:p.Lys443= | |
ENST00000483822.2:n.149A>G | ||
NM_000132.3:c.1329A>G | NP_000123.1:p.Lys443= | |
XM_011531126.1:c.1224A>G | XP_011529428.1:p.Lys408= | |
NM_000132.4:c.1329A>G MANE Select | NP_000123.1:p.Lys443= |