HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957050A>G , CM000685.2:g.154957050A>G | GRCh38 |
NC_000023.10:g.154185325A>G , CM000685.1:g.154185325A>G | GRCh37 |
NC_000023.9:g.153838519A>G | NCBI36 |
NG_011403.1:g.70674T>C | |
NG_011403.2:g.70674T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1659T>C MANE Select | ENSP00000353393.4:p.Ser553= | |
ENST00000647125.1:c.*1535T>C | ENSP00000496062.1:n.*1535T>C | |
ENST00000360256.8:c.1659T>C | ENSP00000353393.4:p.Ser553= | |
NM_000132.3:c.1659T>C | NP_000123.1:p.Ser553= | |
XM_011531126.1:c.1554T>C | XP_011529428.1:p.Ser518= | |
NM_000132.4:c.1659T>C MANE Select | NP_000123.1:p.Ser553= |