HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20889406T>C , CM000684.2:g.20889406T>C | GRCh38 |
NC_000022.10:g.21243694T>C , CM000684.1:g.21243694T>C | GRCh37 |
NC_000022.9:g.19573694T>C | NCBI36 |
NG_012152.1:g.35403T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000215730.12:c.*1570T>C MANE Select | ENSP00000215730.6:n.*1570T>C | |
ENST00000215730.11:c.*1570T>C | ENSP00000215730.6:n.*1570T>C | |
NM_004782.3:c.*1570T>C | NP_004773.1:n.*1570T>C | |
NM_004782.4:c.*1570T>C MANE Select | NP_004773.1:n.*1570T>C |