HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154947736A>G , CM000685.2:g.154947736A>G | GRCh38 |
NC_000023.10:g.154176011A>G , CM000685.1:g.154176011A>G | GRCh37 |
NC_000023.9:g.153829205A>G | NCBI36 |
NG_011403.1:g.79988T>C | |
NG_011403.2:g.79988T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.2075T>C MANE Select | ENSP00000353393.4:p.Phe692Ser | |
ENST00000647125.1:c.*1779+6156T>C | ENSP00000496062.1:n.*1779+6156T>C | |
ENST00000360256.8:c.2075T>C | ENSP00000353393.4:p.Phe692Ser | |
NM_000132.3:c.2075T>C | NP_000123.1:p.Phe692Ser | |
XM_011531126.1:c.1970T>C | XP_011529428.1:p.Phe657Ser | |
NM_000132.4:c.2075T>C MANE Select | NP_000123.1:p.Phe692Ser |