Linked Data
dbSNP Id:
rs546645613
ExAC:
5:31532530 C / T
gnomAD v2:
5-31532530-C-T
gnomAD v3:
5-31532423-C-T
gnomAD v4:
5-31532423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.31532423C>T , CM000667.2:g.31532423C>T | GRCh38 |
| NC_000005.9:g.31532530C>T , CM000667.1:g.31532530C>T | GRCh37 |
| NC_000005.8:g.31568287C>T | NCBI36 |
| NG_051574.1:g.4753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325366.14:c.31C>T MANE Select | ENSP00000326879.9:p.Leu11Phe | |
| ENST00000325366.13:c.31C>T | ENSP00000326879.9:p.Leu11Phe | |
| ENST00000504464.5:c.31C>T | ENSP00000430261.1:p.Leu11Phe | |
| ENST00000507818.6:c.31C>T | ENSP00000430860.1:p.Leu11Phe | |
| ENST00000510659.5:c.31C>T | ENSP00000423039.1:p.Leu11Phe | |
| ENST00000511208.2:c.31C>T | ENSP00000428898.1:p.Leu11Phe | |
| ENST00000513967.5:c.31C>T | ENSP00000421667.1:p.Leu11Phe | |
| ENST00000515409.5:n.129C>T | ||
| ENST00000517780.1:n.129C>T | ||
| NM_018356.2:c.31C>T | NP_060826.2:p.Leu11Phe | |
| XM_005248319.2:c.-541C>T | XP_005248376.1:n.-541C>T | |
| XM_006714479.1:c.-130C>T | XP_006714542.1:n.-130C>T | |
| XM_006714480.2:c.-452C>T | XP_006714543.1:n.-452C>T | |
| XM_011514062.1:c.31C>T | XP_011512364.1:p.Leu11Phe | |
| NR_134298.1:n.158C>T | ||
| XM_006714479.2:c.-130C>T | XP_006714542.1:n.-130C>T | |
| XM_006714480.3:c.-452C>T | XP_006714543.1:n.-452C>T | |
| XM_011514062.3:c.31C>T | XP_011512364.1:p.Leu11Phe | |
| XM_017009607.1:c.31C>T | XP_016865096.1:p.Leu11Phe | |
| XM_017009608.2:c.31C>T | XP_016865097.1:p.Leu11Phe | |
| XM_017009609.1:c.-130C>T | XP_016865098.1:n.-130C>T | |
| XM_017009610.1:c.-544C>T | XP_016865099.1:n.-544C>T | |
| XM_017009611.2:c.-541C>T | XP_016865100.1:n.-541C>T | |
| XM_017009612.2:c.-452C>T | XP_016865101.1:n.-452C>T | |
| XM_017009613.2:c.-544C>T | XP_016865102.1:n.-544C>T | |
| XM_017009614.1:c.-637C>T | XP_016865103.1:n.-637C>T | |
| XM_017009615.1:c.-545C>T | XP_016865104.1:n.-545C>T | |
| XM_017009616.1:c.-449C>T | XP_016865105.1:n.-449C>T | |
| NM_018356.3:c.31C>T MANE Select | NP_060826.2:p.Leu11Phe | |
| NR_134298.2:n.123C>T |