Linked Data
ClinVar Variation Id:
353987
dbSNP Id:
rs371404288
gnomAD v2:
5-58273018-G-A
gnomAD v3:
5-58977191-G-A
gnomAD v4:
5-58977191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.58977191G>A , CM000667.2:g.58977191G>A | GRCh38 |
| NC_000005.9:g.58273018G>A , CM000667.1:g.58273018G>A | GRCh37 |
| NC_000005.8:g.58308775G>A | NCBI36 |
| NG_027957.1:g.1515908C>T | |
| NG_027957.2:g.1552139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.1515C>T | ENSP00000424852.1:p.Ile505= | |
| ENST00000340635.11:c.1707C>T MANE Select | ENSP00000345502.6:p.Ile569= | |
| ENST00000636120.1:c.1377C>T | ENSP00000490821.1:p.Ile459= | |
| ENST00000309641.10:c.1559C>T | ENSP00000308485.6:n.1559C>T | |
| ENST00000317118.12:c.834C>T | ENSP00000321739.8:p.Ile278= | |
| ENST00000340635.10:c.1707C>T | ENSP00000345502.6:p.Ile569= | |
| ENST00000358923.10:c.801C>T | ENSP00000351800.6:p.Ile267= | |
| ENST00000360047.9:c.1299C>T | ENSP00000353152.5:p.Ile433= | |
| ENST00000405755.6:c.1341C>T | ENSP00000384806.2:p.Ile447= | |
| ENST00000502484.6:c.1524C>T | ENSP00000423094.2:p.Ile508= | |
| ENST00000503258.5:c.1317C>T | ENSP00000425605.1:p.Ile439= | |
| ENST00000505453.1:c.801C>T | ENSP00000421013.1:p.Ile267= | |
| ENST00000507116.5:c.1515C>T | ENSP00000424852.1:p.Ile505= | |
| ENST00000515011.5:n.1443C>T | ||
| ENST00000546160.5:c.1314C>T | ENSP00000442734.2:p.Ile438= | |
| NM_001104631.1:c.1707C>T | NP_001098101.1:p.Ile569= | |
| NM_001165899.1:c.1524C>T | NP_001159371.1:p.Ile508= | |
| NM_001197218.1:c.1515C>T | NP_001184147.1:p.Ile505= | |
| NM_001197219.1:c.1341C>T | NP_001184148.1:p.Ile447= | |
| NM_001197220.1:c.1317C>T | NP_001184149.1:p.Ile439= | |
| NM_001197221.1:c.801C>T | NP_001184150.1:p.Ile267= | |
| NM_001197222.1:c.1035C>T | NP_001184151.1:p.Ile345= | |
| NM_001197223.1:c.834C>T | NP_001184152.1:p.Ile278= | |
| NM_006203.4:c.1299C>T | NP_006194.2:p.Ile433= | |
| XM_005248537.2:c.1377C>T | XP_005248594.1:p.Ile459= | |
| XM_005248538.3:c.1299C>T | XP_005248595.1:p.Ile433= | |
| XM_011543469.1:c.1671C>T | XP_011541771.1:p.Ile557= | |
| XM_011543470.1:c.1671C>T | XP_011541772.1:p.Ile557= | |
| XM_011543471.1:c.1524C>T | XP_011541773.1:p.Ile508= | |
| XM_011543472.1:c.1524C>T | XP_011541774.1:p.Ile508= | |
| XM_011543473.1:c.1524C>T | XP_011541775.1:p.Ile508= | |
| XM_011543474.1:c.1494C>T | XP_011541776.1:p.Ile498= | |
| XM_011543475.1:c.1341C>T | XP_011541777.1:p.Ile447= | |
| XM_011543476.1:c.1287C>T | XP_011541778.1:p.Ile429= | |
| XM_011543477.1:c.1266C>T | XP_011541779.1:p.Ile422= | |
| XM_011543478.1:c.1203C>T | XP_011541780.1:p.Ile401= | |
| XM_011543479.1:c.1203C>T | XP_011541781.1:p.Ile401= | |
| NM_001349241.1:c.1494C>T | NP_001336170.1:p.Ile498= | |
| NM_001349242.1:c.1377C>T | NP_001336171.1:p.Ile459= | |
| NM_001349243.1:c.939C>T | NP_001336172.1:p.Ile313= | |
| NM_001364599.1:c.1524C>T | NP_001351528.1:p.Ile508= | |
| NM_001364603.1:c.801C>T | NP_001351532.1:p.Ile267= | |
| NM_001364604.1:c.939C>T | NP_001351533.1:p.Ile313= | |
| XM_011543470.2:c.1671C>T | XP_011541772.1:p.Ile557= | |
| XM_011543471.2:c.1524C>T | XP_011541773.1:p.Ile508= | |
| XM_017009565.1:c.1671C>T | XP_016865054.1:p.Ile557= | |
| XM_017009566.1:c.1524C>T | XP_016865055.1:p.Ile508= | |
| XM_017009567.1:c.1509C>T | XP_016865056.1:p.Ile503= | |
| XM_024446110.1:c.1671C>T | XP_024301878.1:p.Ile557= | |
| XM_024446112.1:c.1524C>T | XP_024301880.1:p.Ile508= | |
| NM_001104631.2:c.1707C>T MANE Select | NP_001098101.1:p.Ile569= | |
| NM_001165899.2:c.1524C>T | NP_001159371.1:p.Ile508= | |
| NM_001197218.2:c.1515C>T | NP_001184147.1:p.Ile505= | |
| NM_001197219.2:c.1341C>T | NP_001184148.1:p.Ile447= | |
| NM_001197220.2:c.1317C>T | NP_001184149.1:p.Ile439= | |
| NM_001197221.2:c.801C>T | NP_001184150.1:p.Ile267= | |
| NM_001197222.2:c.1035C>T | NP_001184151.1:p.Ile345= | |
| NM_001197223.2:c.834C>T | NP_001184152.1:p.Ile278= | |
| NM_001349241.2:c.1494C>T | NP_001336170.1:p.Ile498= | |
| NM_001349243.2:c.939C>T | NP_001336172.1:p.Ile313= | |
| NM_001349242.2:c.1377C>T | NP_001336171.1:p.Ile459= | |
| NM_006203.5:c.1299C>T | NP_006194.2:p.Ile433= |