HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075690T>G , CM000679.2:g.8075690T>G | GRCh38 |
NC_000017.10:g.7979008T>G , CM000679.1:g.7979008T>G | GRCh37 |
NC_000017.9:g.7919733T>G | NCBI36 |
NG_007099.1:g.17014A>C | |
NG_007099.2:g.17027A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1559A>C MANE Select | ENSP00000497784.1:p.Tyr520Ser | |
ENST00000649809.1:c.623A>C | ENSP00000496845.1:p.Tyr208Ser | |
ENST00000319144.4:c.1559A>C | ENSP00000315167.4:p.Tyr520Ser | |
ENST00000577351.5:n.479+485A>C | ||
NM_001139.2:c.1559A>C | NP_001130.1:p.Tyr520Ser | |
NM_001139.3:c.1559A>C MANE Select | NP_001130.1:p.Tyr520Ser |