Linked Data
ClinVar Variation Id:
37635
ClinVar RCV Id:
RCV000129997
RCV000031216
RCV000464859
RCV000501879
RCV000735461
RCV001353519
RCV003318545
dbSNP Id:
rs397507241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063936C>T , CM000679.2:g.43063936C>T | GRCh38 |
| NC_000017.10:g.41215953C>T , CM000679.1:g.41215953C>T | GRCh37 |
| NC_000017.9:g.38469479C>T | NCBI36 |
| NG_005905.2:g.154048G>A , LRG_292:g.154048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5087G>A | ENSP00000417241.2:p.Cys1696Tyr | |
| ENST00000470026.6:c.5090G>A | ENSP00000419274.2:p.Cys1697Tyr | |
| ENST00000473961.6:c.4964G>A | ENSP00000420201.2:p.Cys1655Tyr | |
| ENST00000476777.6:c.5084G>A | ENSP00000417554.2:p.Cys1695Tyr | |
| ENST00000477152.6:c.5012G>A | ENSP00000419988.2:p.Cys1671Tyr | |
| ENST00000478531.6:c.1778G>A | ENSP00000420412.2:p.Cys593Tyr | |
| ENST00000489037.2:c.5012G>A | ENSP00000420781.2:p.Cys1671Tyr | |
| ENST00000493919.6:c.1640G>A | ENSP00000418819.2:p.Cys547Tyr | |
| ENST00000494123.6:c.5090G>A | ENSP00000419103.2:p.Cys1697Tyr | |
| ENST00000497488.2:c.4202G>A | ENSP00000418986.2:p.Cys1401Tyr | |
| ENST00000618469.2:c.5090G>A | ENSP00000478114.2:p.Cys1697Tyr | |
| ENST00000634433.2:c.4967G>A | ENSP00000489431.2:p.Cys1656Tyr | |
| ENST00000644379.2:c.5156G>A | ENSP00000496570.2:p.Cys1719Tyr | |
| ENST00000644555.2:c.1640G>A | ENSP00000494614.2:p.Cys547Tyr | |
| ENST00000652672.2:c.4949G>A | ENSP00000498906.2:p.Cys1650Tyr | |
| ENST00000484087.6:c.1652G>A | ENSP00000419481.2:p.Cys551Tyr | |
| ENST00000357654.9:c.5090G>A MANE Select | ENSP00000350283.3:p.Cys1697Tyr | |
| ENST00000471181.7:c.5153G>A | ENSP00000418960.2:p.Cys1718Tyr | |
| ENST00000644379.1:c.1477G>A | ||
| ENST00000352993.7:c.1664G>A | ENSP00000312236.5:p.Cys555Tyr | |
| ENST00000357654.7:c.5090G>A | ENSP00000350283.3:p.Cys1697Tyr | |
| ENST00000461221.5:c.*4873G>A | ENSP00000418548.1:n.*4873G>A | |
| ENST00000468300.5:c.1778G>A | ENSP00000417148.1:p.Cys593Tyr | |
| ENST00000471181.6:c.5153G>A | ENSP00000418960.2:p.Cys1718Tyr | |
| ENST00000478531.5:c.1778G>A | ENSP00000420412.1:p.Cys593Tyr | |
| ENST00000484087.5:c.1403G>A | ENSP00000419481.1:p.Cys468Tyr | |
| ENST00000491747.6:c.1778G>A | ENSP00000420705.2:p.Cys593Tyr | |
| ENST00000493795.5:c.4949G>A | ENSP00000418775.1:p.Cys1650Tyr | |
| ENST00000493919.5:c.1640G>A | ENSP00000418819.1:p.Cys547Tyr | |
| ENST00000586385.5:c.20G>A | ENSP00000465818.1:p.Cys7Tyr | |
| ENST00000591534.5:c.563G>A | ENSP00000467329.1:p.Cys188Tyr | |
| ENST00000591849.5:c.-98-13746G>A | ENSP00000465347.1:n.-98-13746G>A | |
| NM_007294.3:c.5090G>A , LRG_292t1:c.5090G>A | NP_009225.1:p.Cys1697Tyr | |
| NM_007297.3:c.4949G>A | NP_009228.2:p.Cys1650Tyr | |
| NM_007298.3:c.1778G>A | NP_009229.2:p.Cys593Tyr | |
| NM_007299.3:c.1778G>A | NP_009230.2:p.Cys593Tyr | |
| NM_007300.3:c.5153G>A | NP_009231.2:p.Cys1718Tyr | |
| NR_027676.1:n.5226G>A | ||
| NM_007294.4:c.5090G>A MANE Select | NP_009225.1:p.Cys1697Tyr | |
| NM_007297.4:c.4949G>A | NP_009228.2:p.Cys1650Tyr | |
| NM_007299.4:c.1778G>A | NP_009230.2:p.Cys593Tyr | |
| NM_007300.4:c.5153G>A | NP_009231.2:p.Cys1718Tyr | |
| NR_027676.2:n.5267G>A |