Linked Data
ClinVar Variation Id:
322573
dbSNP Id:
rs753036396
ExAC:
17:29562956 A / G
gnomAD v2:
17-29562956-A-G
gnomAD v3:
17-31235938-A-G
gnomAD v4:
17-31235938-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31235938A>G , CM000679.2:g.31235938A>G | GRCh38 |
| NC_000017.10:g.29562956A>G , CM000679.1:g.29562956A>G | GRCh37 |
| NC_000017.9:g.26587082A>G | NCBI36 |
| NG_009018.1:g.145962A>G , LRG_214:g.145962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.3936A>G | ENSP00000512431.1:p.Leu1312= | |
| ENST00000696139.1:c.1236A>G | ENSP00000512432.1:p.Leu412= | |
| ENST00000687863.1:n.599A>G | ||
| ENST00000691014.1:c.3921A>G | ENSP00000510595.1:p.Leu1307= | |
| ENST00000358273.9:c.3891A>G MANE Select | ENSP00000351015.4:p.Leu1297= | |
| ENST00000356175.7:c.3891A>G | ENSP00000348498.3:p.Leu1297= | |
| ENST00000358273.8:c.3891A>G | ENSP00000351015.4:p.Leu1297= | |
| ENST00000456735.6:c.2889A>G | ENSP00000389907.2:p.Leu963= | |
| ENST00000466819.5:c.367A>G | ||
| ENST00000479614.1:c.367A>G | ||
| ENST00000493220.5:n.2427A>G | ||
| ENST00000495910.6:c.3666A>G | ||
| ENST00000579081.5:c.3993A>G | ENSP00000462408.1:p.Leu1331= | |
| NM_000267.3:c.3891A>G , LRG_214t1:c.3891A>G | NP_000258.1:p.Leu1297= | |
| NM_001042492.2:c.3891A>G , LRG_214t2:c.3891A>G | NP_001035957.1:p.Leu1297= | |
| XM_005257983.1:c.3891A>G | XP_005258040.1:p.Leu1297= | |
| XM_005257984.1:c.3891A>G | XP_005258041.1:p.Leu1297= | |
| XM_006721922.1:c.3921A>G | XP_006721985.1:p.Leu1307= | |
| XM_006721923.2:c.3882A>G | XP_006721986.1:p.Leu1294= | |
| XM_006721924.1:c.3921A>G | XP_006721987.1:p.Leu1307= | |
| XM_006721925.1:c.3921A>G | XP_006721988.1:p.Leu1307= | |
| XM_006721926.2:c.3921A>G | XP_006721989.1:p.Leu1307= | |
| XM_006721927.1:c.3921A>G | XP_006721990.1:p.Leu1307= | |
| XM_006721928.2:c.3921A>G | XP_006721991.1:p.Leu1307= | |
| XM_011524852.1:c.3918A>G | XP_011523154.1:p.Leu1306= | |
| XM_011524853.1:c.3882A>G | XP_011523155.1:p.Leu1294= | |
| XM_011524854.1:c.3882A>G | XP_011523156.1:p.Leu1294= | |
| XM_011524855.1:c.3882A>G | XP_011523157.1:p.Leu1294= | |
| XM_011524856.1:c.3882A>G | XP_011523158.1:p.Leu1294= | |
| XM_011524857.1:c.3921A>G | XP_011523159.1:p.Leu1307= | |
| NM_001042492.3:c.3891A>G MANE Select | NP_001035957.1:p.Leu1297= |