HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160109594T>G , CM000668.2:g.160109594T>G | GRCh38 |
NC_000006.11:g.160530626T>G , CM000668.1:g.160530626T>G | GRCh37 |
NC_000006.10:g.160450616T>G | NCBI36 |
NG_011785.3:g.145496T>G | |
NG_011785.4:g.145496T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356956.6:c.*4510T>G MANE Select | ENSP00000349437.1:n.*4510T>G | |
ENST00000676781.1:c.*10094T>G | ENSP00000504419.1:n.*10094T>G | |
ENST00000677704.1:c.*7857T>G | ENSP00000503314.1:n.*7857T>G | |
ENST00000678224.1:c.*4510T>G | ENSP00000504616.1:n.*4510T>G | |
ENST00000356956.5:c.*4510T>G | ENSP00000349437.1:n.*4510T>G | |
ENST00000475584.1:n.403-2971T>G | ||
NM_000876.3:c.*4510T>G | NP_000867.2:n.*4510T>G | |
NM_000876.4:c.*4510T>G MANE Select | NP_000867.3:n.*4510T>G |