Linked Data
dbSNP Id:
rs1744779573
gnomAD v4:
5-59193521-C-T
MyVariant Identifiers:
chr5:g.58489347C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59193521C>T , CM000667.2:g.59193521C>T | GRCh38 |
| NC_000005.9:g.58489347C>T , CM000667.1:g.58489347C>T | GRCh37 |
| NC_000005.8:g.58525104C>T | NCBI36 |
| NG_027957.1:g.1299579G>A | |
| NG_027957.2:g.1335809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.471G>A | ENSP00000424852.1:p.Leu157= | |
| ENST00000340635.11:c.663G>A MANE Select | ENSP00000345502.6:p.Leu221= | |
| ENST00000636120.1:c.333G>A | ENSP00000490821.1:p.Leu111= | |
| ENST00000638939.1:c.228G>A | ENSP00000492052.1:p.Leu76= | |
| ENST00000309641.10:c.471G>A | ENSP00000308485.6:p.Leu157= | |
| ENST00000340635.10:c.663G>A | ENSP00000345502.6:p.Leu221= | |
| ENST00000360047.9:c.255G>A | ENSP00000353152.5:p.Leu85= | |
| ENST00000405053.7:n.326G>A | ||
| ENST00000405755.6:c.297G>A | ENSP00000384806.2:p.Leu99= | |
| ENST00000502484.6:c.480G>A | ENSP00000423094.2:p.Leu160= | |
| ENST00000502575.1:c.471G>A | ENSP00000425917.1:p.Leu157= | |
| ENST00000503258.5:c.273G>A | ENSP00000425605.1:p.Leu91= | |
| ENST00000505453.1:c.-98-154550G>A | ENSP00000421013.1:n.-98-154550G>A | |
| ENST00000507116.5:c.471G>A | ENSP00000424852.1:p.Leu157= | |
| ENST00000515324.1:n.175G>A | ||
| ENST00000546160.5:c.270G>A | ENSP00000442734.2:p.Leu90= | |
| ENST00000621323.4:n.208G>A | ||
| NM_001104631.1:c.663G>A | NP_001098101.1:p.Leu221= | |
| NM_001165899.1:c.480G>A | NP_001159371.1:p.Leu160= | |
| NM_001197218.1:c.471G>A | NP_001184147.1:p.Leu157= | |
| NM_001197219.1:c.297G>A | NP_001184148.1:p.Leu99= | |
| NM_001197220.1:c.273G>A | NP_001184149.1:p.Leu91= | |
| NM_006203.4:c.255G>A | NP_006194.2:p.Leu85= | |
| XM_005248537.2:c.333G>A | XP_005248594.1:p.Leu111= | |
| XM_005248538.3:c.255G>A | XP_005248595.1:p.Leu85= | |
| XM_011543469.1:c.627G>A | XP_011541771.1:p.Leu209= | |
| XM_011543470.1:c.627G>A | XP_011541772.1:p.Leu209= | |
| XM_011543471.1:c.480G>A | XP_011541773.1:p.Leu160= | |
| XM_011543472.1:c.480G>A | XP_011541774.1:p.Leu160= | |
| XM_011543473.1:c.480G>A | XP_011541775.1:p.Leu160= | |
| XM_011543474.1:c.450G>A | XP_011541776.1:p.Leu150= | |
| XM_011543475.1:c.297G>A | XP_011541777.1:p.Leu99= | |
| XM_011543476.1:c.243G>A | XP_011541778.1:p.Leu81= | |
| XM_011543477.1:c.222G>A | XP_011541779.1:p.Leu74= | |
| XM_011543478.1:c.159G>A | XP_011541780.1:p.Leu53= | |
| XM_011543479.1:c.159G>A | XP_011541781.1:p.Leu53= | |
| NM_001349241.1:c.450G>A | NP_001336170.1:p.Leu150= | |
| NM_001349242.1:c.333G>A | NP_001336171.1:p.Leu111= | |
| NM_001349243.1:c.-32G>A | NP_001336172.1:n.-32G>A | |
| NM_001364599.1:c.480G>A | NP_001351528.1:p.Leu160= | |
| NM_001364600.1:c.480G>A | NP_001351529.1:p.Leu160= | |
| NM_001364602.1:c.471G>A | NP_001351531.1:p.Leu157= | |
| NM_001364603.1:c.-288G>A | NP_001351532.1:n.-288G>A | |
| NM_001364604.1:c.-32G>A | NP_001351533.1:n.-32G>A | |
| XM_011543470.2:c.627G>A | XP_011541772.1:p.Leu209= | |
| XM_011543471.2:c.480G>A | XP_011541773.1:p.Leu160= | |
| XM_017009565.1:c.627G>A | XP_016865054.1:p.Leu209= | |
| XM_017009566.1:c.480G>A | XP_016865055.1:p.Leu160= | |
| XM_017009567.1:c.465G>A | XP_016865056.1:p.Leu155= | |
| XM_024446110.1:c.627G>A | XP_024301878.1:p.Leu209= | |
| XM_024446112.1:c.480G>A | XP_024301880.1:p.Leu160= | |
| NM_001104631.2:c.663G>A MANE Select | NP_001098101.1:p.Leu221= | |
| NM_001165899.2:c.480G>A | NP_001159371.1:p.Leu160= | |
| NM_001197218.2:c.471G>A | NP_001184147.1:p.Leu157= | |
| NM_001197219.2:c.297G>A | NP_001184148.1:p.Leu99= | |
| NM_001197220.2:c.273G>A | NP_001184149.1:p.Leu91= | |
| NM_001349241.2:c.450G>A | NP_001336170.1:p.Leu150= | |
| NM_001349243.2:c.-32G>A | NP_001336172.1:n.-32G>A | |
| NM_001364600.2:c.480G>A | NP_001351529.1:p.Leu160= | |
| NM_001364602.2:c.471G>A | NP_001351531.1:p.Leu157= | |
| NM_001349242.2:c.333G>A | NP_001336171.1:p.Leu111= | |
| NM_006203.5:c.255G>A | NP_006194.2:p.Leu85= |