HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73442723A>C , CM000669.2:g.73442723A>C | GRCh38 |
NC_000007.13:g.72857053A>C , CM000669.1:g.72857053A>C | GRCh37 |
NC_000007.12:g.72494989A>C | NCBI36 |
NG_027679.1:g.84563T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000339594.9:c.4094+2T>G MANE Select | ENSP00000342434.4:n.4094+2T>G | |
ENST00000339594.8:c.4094+2T>G | ENSP00000342434.4:n.4094+2T>G | |
ENST00000404251.1:c.4094+2T>G | ENSP00000385442.1:n.4094+2T>G | |
NM_032408.3:c.4094+2T>G | NP_115784.1:n.4094+2T>G | |
XM_017012773.2:c.4094+2T>G | XP_016868262.1:n.4094+2T>G | |
NM_032408.4:c.4094+2T>G MANE Select | NP_115784.1:n.4094+2T>G | |
NM_001370402.1:c.4094+2T>G | NP_001357331.1:n.4094+2T>G |