Linked Data
dbSNP Id:
rs1751129245
gnomAD v4:
5-59215788-A-G
MyVariant Identifiers:
chr5:g.58511614A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59215788A>G , CM000667.2:g.59215788A>G | GRCh38 |
| NC_000005.9:g.58511614A>G , CM000667.1:g.58511614A>G | GRCh37 |
| NC_000005.8:g.58547371A>G | NCBI36 |
| NG_027957.1:g.1277312T>C | |
| NG_027957.2:g.1313542T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.444T>C | ENSP00000424852.1:p.Ile148= | |
| ENST00000340635.11:c.636T>C MANE Select | ENSP00000345502.6:p.Ile212= | |
| ENST00000636120.1:c.306T>C | ENSP00000490821.1:p.Ile102= | |
| ENST00000638939.1:c.201T>C | ENSP00000492052.1:p.Ile67= | |
| ENST00000309641.10:c.444T>C | ENSP00000308485.6:p.Ile148= | |
| ENST00000340635.10:c.636T>C | ENSP00000345502.6:p.Ile212= | |
| ENST00000360047.9:c.228T>C | ENSP00000353152.5:p.Ile76= | |
| ENST00000405053.7:n.299T>C | ||
| ENST00000405755.6:c.270T>C | ENSP00000384806.2:p.Ile90= | |
| ENST00000502484.6:c.453T>C | ENSP00000423094.2:p.Ile151= | |
| ENST00000502575.1:c.444T>C | ENSP00000425917.1:p.Ile148= | |
| ENST00000503258.5:c.246T>C | ENSP00000425605.1:p.Ile82= | |
| ENST00000505453.1:c.-98-176817T>C | ENSP00000421013.1:n.-98-176817T>C | |
| ENST00000507116.5:c.444T>C | ENSP00000424852.1:p.Ile148= | |
| ENST00000514231.1:n.399T>C | ||
| ENST00000515324.1:n.148T>C | ||
| ENST00000546160.5:c.243T>C | ENSP00000442734.2:p.Ile81= | |
| ENST00000621323.4:n.181T>C | ||
| NM_001104631.1:c.636T>C | NP_001098101.1:p.Ile212= | |
| NM_001165899.1:c.453T>C | NP_001159371.1:p.Ile151= | |
| NM_001197218.1:c.444T>C | NP_001184147.1:p.Ile148= | |
| NM_001197219.1:c.270T>C | NP_001184148.1:p.Ile90= | |
| NM_001197220.1:c.246T>C | NP_001184149.1:p.Ile82= | |
| NM_006203.4:c.228T>C | NP_006194.2:p.Ile76= | |
| XM_005248537.2:c.306T>C | XP_005248594.1:p.Ile102= | |
| XM_005248538.3:c.228T>C | XP_005248595.1:p.Ile76= | |
| XM_011543469.1:c.600T>C | XP_011541771.1:p.Ile200= | |
| XM_011543470.1:c.600T>C | XP_011541772.1:p.Ile200= | |
| XM_011543471.1:c.453T>C | XP_011541773.1:p.Ile151= | |
| XM_011543472.1:c.453T>C | XP_011541774.1:p.Ile151= | |
| XM_011543473.1:c.453T>C | XP_011541775.1:p.Ile151= | |
| XM_011543474.1:c.423T>C | XP_011541776.1:p.Ile141= | |
| XM_011543475.1:c.270T>C | XP_011541777.1:p.Ile90= | |
| XM_011543476.1:c.216T>C | XP_011541778.1:p.Ile72= | |
| XM_011543477.1:c.195T>C | XP_011541779.1:p.Ile65= | |
| XM_011543478.1:c.132T>C | XP_011541780.1:p.Ile44= | |
| XM_011543479.1:c.132T>C | XP_011541781.1:p.Ile44= | |
| NM_001349241.1:c.423T>C | NP_001336170.1:p.Ile141= | |
| NM_001349242.1:c.306T>C | NP_001336171.1:p.Ile102= | |
| NM_001349243.1:c.-59T>C | NP_001336172.1:n.-59T>C | |
| NM_001364599.1:c.453T>C | NP_001351528.1:p.Ile151= | |
| NM_001364600.1:c.453T>C | NP_001351529.1:p.Ile151= | |
| NM_001364601.1:c.444T>C | NP_001351530.1:p.Ile148= | |
| NM_001364602.1:c.444T>C | NP_001351531.1:p.Ile148= | |
| NM_001364603.1:c.-315T>C | NP_001351532.1:n.-315T>C | |
| NM_001364604.1:c.-59T>C | NP_001351533.1:n.-59T>C | |
| XM_011543470.2:c.600T>C | XP_011541772.1:p.Ile200= | |
| XM_011543471.2:c.453T>C | XP_011541773.1:p.Ile151= | |
| XM_017009565.1:c.600T>C | XP_016865054.1:p.Ile200= | |
| XM_017009566.1:c.453T>C | XP_016865055.1:p.Ile151= | |
| XM_017009567.1:c.438T>C | XP_016865056.1:p.Ile146= | |
| XM_024446110.1:c.600T>C | XP_024301878.1:p.Ile200= | |
| XM_024446112.1:c.453T>C | XP_024301880.1:p.Ile151= | |
| NM_001104631.2:c.636T>C MANE Select | NP_001098101.1:p.Ile212= | |
| NM_001165899.2:c.453T>C | NP_001159371.1:p.Ile151= | |
| NM_001197218.2:c.444T>C | NP_001184147.1:p.Ile148= | |
| NM_001197219.2:c.270T>C | NP_001184148.1:p.Ile90= | |
| NM_001197220.2:c.246T>C | NP_001184149.1:p.Ile82= | |
| NM_001349241.2:c.423T>C | NP_001336170.1:p.Ile141= | |
| NM_001349243.2:c.-59T>C | NP_001336172.1:n.-59T>C | |
| NM_001364600.2:c.453T>C | NP_001351529.1:p.Ile151= | |
| NM_001364602.2:c.444T>C | NP_001351531.1:p.Ile148= | |
| NM_001349242.2:c.306T>C | NP_001336171.1:p.Ile102= | |
| NM_006203.5:c.228T>C | NP_006194.2:p.Ile76= |