HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945639A>G , CM000671.2:g.128945639A>G | GRCh38 |
NC_000009.11:g.131707918A>G , CM000671.1:g.131707918A>G | GRCh37 |
NC_000009.10:g.130747739A>G | NCBI36 |
NG_017009.1:g.7095T>C , LRG_744:g.7095T>C | |
NG_033111.1:g.2947A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.*48T>C MANE Select | ENSP00000361667.3:n.*48T>C | |
ENST00000372586.3:c.*48T>C | ENSP00000361667.3:n.*48T>C | |
ENST00000482796.1:c.39-3550A>G | ENSP00000417556.2:n.39-3550A>G | |
NM_014908.3:c.*48T>C , LRG_744t1:c.*48T>C | NP_055723.1:n.*48T>C | |
NM_014908.4:c.*48T>C MANE Select | NP_055723.1:n.*48T>C |