HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884770T>G , CM000680.2:g.13884770T>G | GRCh38 |
NC_000018.9:g.13884769T>G , CM000680.1:g.13884769T>G | GRCh37 |
NC_000018.8:g.13874769T>G | NCBI36 |
NG_011819.1:g.35767A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327606.4:c.749A>C MANE Select | ENSP00000333821.2:p.Tyr250Ser | |
ENST00000327606.3:c.749A>C | ENSP00000333821.2:p.Tyr250Ser | |
NM_000529.2:c.749A>C MANE Select | NP_000520.1:p.Tyr250Ser | |
NM_001291911.1:c.749A>C | NP_001278840.1:p.Tyr250Ser | |
XM_017025781.1:c.749A>C | XP_016881270.1:p.Tyr250Ser |