HGVS | Genome Assembly |
---|---|
NC_000015.10:g.82538982A>G , CM000677.2:g.82538982A>G | GRCh38 |
NC_000015.9:g.82823390A>G , CM000677.1:g.82823390A>G | GRCh37 |
NC_000015.8:g.80610445A>G | NCBI36 |
NG_009890.1:g.6256T>C | |
NG_009890.2:g.6563T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560229.6:n.481T>C | ||
ENST00000562833.2:c.1506T>C | ENSP00000454786.2:p.Tyr502= | |
ENST00000642270.1:c.1513T>C | ENSP00000496443.1:n.1513T>C | |
ENST00000647841.1:c.159T>C MANE Select | ENSP00000498019.1:p.Tyr53= | |
ENST00000330244.10:c.159T>C | ENSP00000346046.5:p.Tyr53= | |
ENST00000558397.1:c.159T>C | ENSP00000452889.1:p.Tyr53= | |
ENST00000559776.1:n.443T>C | ||
ENST00000560229.5:n.481T>C | ||
ENST00000560612.1:n.166T>C | ||
ENST00000560639.1:n.183T>C | ||
ENST00000561068.5:c.231T>C | ||
ENST00000561157.5:c.159T>C | ENSP00000453910.1:p.Tyr53= | |
ENST00000561440.1:n.1152T>C | ||
NM_001021.4:c.159T>C | NP_001012.1:p.Tyr53= | |
NR_111943.1:n.481T>C | ||
NR_111944.1:n.275T>C | ||
NM_001021.6:c.159T>C MANE Select | NP_001012.1:p.Tyr53= | |
NR_111944.2:n.295T>C | ||
NR_111943.2:n.481T>C | ||
NR_111944.3:n.188T>C |