HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022709A>G , CM000663.2:g.17022709A>G | GRCh38 |
NC_000001.10:g.17349204A>G , CM000663.1:g.17349204A>G | GRCh37 |
NC_000001.9:g.17221791A>G | NCBI36 |
NG_012340.1:g.36462T>C , LRG_316:g.36462T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.493T>C | ENSP00000481376.2:p.Ser165Pro | |
ENST00000491274.6:c.622T>C | ENSP00000480482.2:p.Ser208Pro | |
ENST00000375499.8:c.664T>C MANE Select | ENSP00000364649.3:p.Ser222Pro | |
ENST00000375499.7:c.664T>C | ENSP00000364649.3:p.Ser222Pro | |
ENST00000475049.5:n.89T>C | ||
ENST00000485092.5:n.328T>C | ||
ENST00000485515.5:n.598T>C | ||
NM_003000.2:c.664T>C , LRG_316t1:c.664T>C | NP_002991.2:p.Ser222Pro | |
NM_003000.3:c.664T>C MANE Select | NP_002991.2:p.Ser222Pro |