Linked Data
ClinVar Variation Id:
208854
dbSNP Id:
rs771529172
gnomAD v2:
17-29654737-G-T
gnomAD v4:
17-31327719-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31327719G>T , CM000679.2:g.31327719G>T | GRCh38 |
| NC_000017.10:g.29654737G>T , CM000679.1:g.29654737G>T | GRCh37 |
| NC_000017.9:g.26678863G>T | NCBI36 |
| NG_009018.1:g.237743G>T , LRG_214:g.237743G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1677G>T | ENSP00000492721.2:n.1677G>T | |
| ENST00000696138.1:c.5471G>T | ENSP00000512431.1:p.Arg1824Leu | |
| ENST00000684826.1:c.53G>T | ENSP00000509994.1:p.Arg18Leu | |
| ENST00000687027.1:c.-236+1467G>T | ENSP00000508715.1:n.-236+1467G>T | |
| ENST00000687863.1:n.2134G>T | ||
| ENST00000691014.1:c.5519G>T | ENSP00000510595.1:p.Arg1840Leu | |
| ENST00000693617.1:c.53G>T | ENSP00000510031.1:p.Arg18Leu | |
| ENST00000358273.9:c.5489G>T MANE Select | ENSP00000351015.4:p.Arg1830Leu | |
| ENST00000356175.7:c.5426G>T | ENSP00000348498.3:p.Arg1809Leu | |
| ENST00000358273.8:c.5489G>T | ENSP00000351015.4:p.Arg1830Leu | |
| ENST00000456735.6:c.4424G>T | ENSP00000389907.2:p.Arg1475Leu | |
| ENST00000493220.5:n.3962G>T | ||
| ENST00000579081.5:c.5625G>T | ENSP00000462408.1:n.5625G>T | |
| ENST00000581113.6:n.806G>T | ||
| NM_000267.3:c.5426G>T , LRG_214t1:c.5426G>T | NP_000258.1:p.Arg1809Leu | |
| NM_001042492.2:c.5489G>T , LRG_214t2:c.5489G>T | NP_001035957.1:p.Arg1830Leu | |
| XM_005257983.1:c.5489G>T | XP_005258040.1:p.Arg1830Leu | |
| XM_005257984.1:c.5426G>T | XP_005258041.1:p.Arg1809Leu | |
| XM_006721922.1:c.5519G>T | XP_006721985.1:p.Arg1840Leu | |
| XM_006721923.2:c.5480G>T | XP_006721986.1:p.Arg1827Leu | |
| XM_006721924.1:c.5519G>T | XP_006721987.1:p.Arg1840Leu | |
| XM_006721925.1:c.5456G>T | XP_006721988.1:p.Arg1819Leu | |
| XM_006721926.2:c.5519G>T | XP_006721989.1:p.Arg1840Leu | |
| XM_006721927.1:c.5519G>T | XP_006721990.1:p.Arg1840Leu | |
| XM_011524852.1:c.5516G>T | XP_011523154.1:p.Arg1839Leu | |
| XM_011524853.1:c.5480G>T | XP_011523155.1:p.Arg1827Leu | |
| XM_011524854.1:c.5480G>T | XP_011523156.1:p.Arg1827Leu | |
| XM_011524855.1:c.5480G>T | XP_011523157.1:p.Arg1827Leu | |
| XM_011524856.1:c.5480G>T | XP_011523158.1:p.Arg1827Leu | |
| XM_011524857.1:c.5519G>T | XP_011523159.1:p.Arg1840Leu | |
| NM_001042492.3:c.5489G>T MANE Select | NP_001035957.1:p.Arg1830Leu |