HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024019T>G , CM000663.2:g.17024019T>G | GRCh38 |
NC_000001.10:g.17350514T>G , CM000663.1:g.17350514T>G | GRCh37 |
NC_000001.9:g.17223101T>G | NCBI36 |
NG_012340.1:g.35152A>C , LRG_316:g.35152A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.425A>C | ENSP00000481376.2:p.Tyr142Ser | |
ENST00000491274.6:c.554A>C | ENSP00000480482.2:p.Tyr185Ser | |
ENST00000375499.8:c.596A>C MANE Select | ENSP00000364649.3:p.Tyr199Ser | |
ENST00000375499.7:c.596A>C | ENSP00000364649.3:p.Tyr199Ser | |
ENST00000485515.5:n.530A>C | ||
ENST00000491274.5:c.554A>C | ENSP00000480482.1:p.Tyr185Ser | |
NM_003000.2:c.596A>C , LRG_316t1:c.596A>C | NP_002991.2:p.Tyr199Ser | |
NM_003000.3:c.596A>C MANE Select | NP_002991.2:p.Tyr199Ser |