HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256286A= , CM000671.2:g.133256286A= | GRCh38 |
NC_000009.11:g.136131673A= , CM000671.1:g.136131673A= | GRCh37 |
NC_000009.10:g.135121494A= | NCBI36 |
NG_006669.1:g.21382T= | |
NG_006669.2:g.23930T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.474T= | ||
ENST00000647353.1:n.54-5134T= | ||
ENST00000651471.1:n.400T= | ||
ENST00000679909.1:c.28+18876T= | ENSP00000506089.1:n.28+18876T= | |
ENST00000453660.3:n.456T= | ||
ENST00000538324.2:c.442T= | ENSP00000483018.1:p.Tyr148= | |
ENST00000611156.4:c.442T= | ENSP00000483265.1:p.Tyr148= | |
NM_020469.2:c.445T= | NP_065202.2:p.Tyr149= | |
NM_020469.3:c.445T= | NP_065202.2:p.Tyr149= |