Linked Data
ClinVar Variation Id:
2813412
ClinVar RCV Id:
RCV003599032
dbSNP Id:
rs2067145365
gnomAD v4:
17-31233203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31233203G>A , CM000679.2:g.31233203G>A | GRCh38 |
| NC_000017.10:g.29560221G>A , CM000679.1:g.29560221G>A | GRCh37 |
| NC_000017.9:g.26584347G>A | NCBI36 |
| NG_009018.1:g.143227G>A , LRG_214:g.143227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.3743G>A | ENSP00000512431.1:p.Cys1248Tyr | |
| ENST00000696139.1:c.1043G>A | ENSP00000512432.1:p.Cys348Tyr | |
| ENST00000691014.1:c.3728G>A | ENSP00000510595.1:p.Cys1243Tyr | |
| ENST00000693210.1:n.424G>A | ||
| ENST00000358273.9:c.3698G>A MANE Select | ENSP00000351015.4:p.Cys1233Tyr | |
| ENST00000356175.7:c.3698G>A | ENSP00000348498.3:p.Cys1233Tyr | |
| ENST00000358273.8:c.3698G>A | ENSP00000351015.4:p.Cys1233Tyr | |
| ENST00000456735.6:c.2696G>A | ENSP00000389907.2:p.Cys899Tyr | |
| ENST00000466819.5:c.174G>A | ||
| ENST00000479614.1:c.174G>A | ||
| ENST00000493220.5:n.2234G>A | ||
| ENST00000495910.6:c.3473G>A | ||
| ENST00000579081.5:c.3800G>A | ENSP00000462408.1:p.Cys1267Tyr | |
| NM_000267.3:c.3698G>A , LRG_214t1:c.3698G>A | NP_000258.1:p.Cys1233Tyr | |
| NM_001042492.2:c.3698G>A , LRG_214t2:c.3698G>A | NP_001035957.1:p.Cys1233Tyr | |
| XM_005257983.1:c.3698G>A | XP_005258040.1:p.Cys1233Tyr | |
| XM_005257984.1:c.3698G>A | XP_005258041.1:p.Cys1233Tyr | |
| XM_006721922.1:c.3728G>A | XP_006721985.1:p.Cys1243Tyr | |
| XM_006721923.2:c.3689G>A | XP_006721986.1:p.Cys1230Tyr | |
| XM_006721924.1:c.3728G>A | XP_006721987.1:p.Cys1243Tyr | |
| XM_006721925.1:c.3728G>A | XP_006721988.1:p.Cys1243Tyr | |
| XM_006721926.2:c.3728G>A | XP_006721989.1:p.Cys1243Tyr | |
| XM_006721927.1:c.3728G>A | XP_006721990.1:p.Cys1243Tyr | |
| XM_006721928.2:c.3728G>A | XP_006721991.1:p.Cys1243Tyr | |
| XM_011524852.1:c.3725G>A | XP_011523154.1:p.Cys1242Tyr | |
| XM_011524853.1:c.3689G>A | XP_011523155.1:p.Cys1230Tyr | |
| XM_011524854.1:c.3689G>A | XP_011523156.1:p.Cys1230Tyr | |
| XM_011524855.1:c.3689G>A | XP_011523157.1:p.Cys1230Tyr | |
| XM_011524856.1:c.3689G>A | XP_011523158.1:p.Cys1230Tyr | |
| XM_011524857.1:c.3728G>A | XP_011523159.1:p.Cys1243Tyr | |
| NM_001042492.3:c.3698G>A MANE Select | NP_001035957.1:p.Cys1233Tyr |