HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134356245G>C , CM000671.2:g.134356245G>C | GRCh38 |
NC_000009.11:g.137248091G>C , CM000671.1:g.137248091G>C | GRCh37 |
NC_000009.10:g.136387912G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000481739.2:c.28+29586G>C MANE Select | ENSP00000419692.1:n.28+29586G>C | |
ENST00000481739.1:c.28+29586G>C | ENSP00000419692.1:n.28+29586G>C | |
ENST00000484822.1:n.452+36761G>C | ||
NM_002957.5:c.28+29586G>C | NP_002948.1:n.28+29586G>C | |
NM_002957.6:c.28+29586G>C MANE Select | NP_002948.1:n.28+29586G>C |