Linked Data
ClinVar Variation Id:
404490
dbSNP Id:
rs754651519
ExAC:
17:29592323 G / A
gnomAD v4:
17-31265305-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31265305G>A , CM000679.2:g.31265305G>A | GRCh38 |
| NC_000017.10:g.29592323G>A , CM000679.1:g.29592323G>A | GRCh37 |
| NC_000017.9:g.26616449G>A | NCBI36 |
| NG_009018.1:g.175329G>A , LRG_214:g.175329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.603G>A | ENSP00000492721.2:n.603G>A | |
| ENST00000696138.1:c.4783G>A | ENSP00000512431.1:p.Ala1595Thr | |
| ENST00000696140.1:n.907G>A | ||
| ENST00000696141.1:c.792G>A | ||
| ENST00000687863.1:n.1446G>A | ||
| ENST00000691014.1:c.4831G>A | ENSP00000510595.1:p.Ala1611Thr | |
| ENST00000358273.9:c.4801G>A MANE Select | ENSP00000351015.4:p.Ala1601Thr | |
| ENST00000356175.7:c.4738G>A | ENSP00000348498.3:p.Ala1580Thr | |
| ENST00000358273.8:c.4801G>A | ENSP00000351015.4:p.Ala1601Thr | |
| ENST00000456735.6:c.3736G>A | ENSP00000389907.2:p.Ala1246Thr | |
| ENST00000493220.5:n.3274G>A | ||
| ENST00000579081.5:c.4840G>A | ENSP00000462408.1:p.Ala1614Thr | |
| NM_000267.3:c.4738G>A , LRG_214t1:c.4738G>A | NP_000258.1:p.Ala1580Thr | |
| NM_001042492.2:c.4801G>A , LRG_214t2:c.4801G>A | NP_001035957.1:p.Ala1601Thr | |
| XM_005257983.1:c.4801G>A | XP_005258040.1:p.Ala1601Thr | |
| XM_005257984.1:c.4738G>A | XP_005258041.1:p.Ala1580Thr | |
| XM_006721922.1:c.4831G>A | XP_006721985.1:p.Ala1611Thr | |
| XM_006721923.2:c.4792G>A | XP_006721986.1:p.Ala1598Thr | |
| XM_006721924.1:c.4831G>A | XP_006721987.1:p.Ala1611Thr | |
| XM_006721925.1:c.4768G>A | XP_006721988.1:p.Ala1590Thr | |
| XM_006721926.2:c.4831G>A | XP_006721989.1:p.Ala1611Thr | |
| XM_006721927.1:c.4831G>A | XP_006721990.1:p.Ala1611Thr | |
| XM_006721928.2:c.4831G>A | XP_006721991.1:p.Ala1611Thr | |
| XM_011524852.1:c.4828G>A | XP_011523154.1:p.Ala1610Thr | |
| XM_011524853.1:c.4792G>A | XP_011523155.1:p.Ala1598Thr | |
| XM_011524854.1:c.4792G>A | XP_011523156.1:p.Ala1598Thr | |
| XM_011524855.1:c.4792G>A | XP_011523157.1:p.Ala1598Thr | |
| XM_011524856.1:c.4792G>A | XP_011523158.1:p.Ala1598Thr | |
| XM_011524857.1:c.4831G>A | XP_011523159.1:p.Ala1611Thr | |
| NM_001042492.3:c.4801G>A MANE Select | NP_001035957.1:p.Ala1601Thr |