HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188993447T>C , CM000664.2:g.188993447T>C | GRCh38 |
NC_000002.11:g.189858173T>C , CM000664.1:g.189858173T>C | GRCh37 |
NC_000002.10:g.189566418T>C | NCBI36 |
NG_007404.1:g.24075T>C , LRG_3:g.24075T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1050+507T>C | ENSP00000415346.2:n.1050+507T>C | |
ENST00000304636.9:c.1137T>C MANE Select | ENSP00000304408.4:p.Ala379= | |
ENST00000304636.7:c.1137T>C | ENSP00000304408.3:p.Ala379= | |
ENST00000317840.9:c.1137T>C | ENSP00000315243.6:p.Ala379= | |
ENST00000450867.1:c.148+507T>C | ||
NM_000090.3:c.1137T>C , LRG_3t1:c.1137T>C | NP_000081.1:p.Ala379= | |
NM_000090.4:c.1137T>C MANE Select | NP_000081.2:p.Ala379= |