HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130599T>C , CM000668.2:g.18130599T>C | GRCh38 |
NC_000006.11:g.18130830T>C , CM000668.1:g.18130830T>C | GRCh37 |
NC_000006.10:g.18238809T>C | NCBI36 |
NG_012137.2:g.29545A>G | |
NG_012137.3:g.29545A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000309983.5:c.*69A>G MANE Select | ENSP00000312304.4:n.*69A>G | |
ENST00000309983.4:c.*69A>G | ENSP00000312304.4:n.*69A>G | |
NM_000367.3:c.*69A>G | NP_000358.1:n.*69A>G | |
XM_011514839.1:c.*69A>G | XP_011513141.1:n.*69A>G | |
XM_011514840.1:c.*69A>G | XP_011513142.1:n.*69A>G | |
NM_000367.4:c.*69A>G | NP_000358.1:n.*69A>G | |
NM_001346817.1:c.*69A>G | NP_001333746.1:n.*69A>G | |
NM_001346818.1:c.*69A>G | NP_001333747.1:n.*69A>G | |
NM_000367.5:c.*69A>G MANE Select | NP_000358.1:n.*69A>G |