HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134356231T>A , CM000671.2:g.134356231T>A | GRCh38 |
NC_000009.11:g.137248077T>A , CM000671.1:g.137248077T>A | GRCh37 |
NC_000009.10:g.136387898T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000481739.2:c.28+29572T>A MANE Select | ENSP00000419692.1:n.28+29572T>A | |
ENST00000481739.1:c.28+29572T>A | ENSP00000419692.1:n.28+29572T>A | |
ENST00000484822.1:n.452+36747T>A | ||
NM_002957.5:c.28+29572T>A | NP_002948.1:n.28+29572T>A | |
NM_002957.6:c.28+29572T>A MANE Select | NP_002948.1:n.28+29572T>A |