Linked Data
ClinVar Variation Id:
37670
dbSNP Id:
rs1800751
gnomAD v2:
17-41199693-G-C
gnomAD v4:
17-43047676-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047676G>C , CM000679.2:g.43047676G>C | GRCh38 |
| NC_000017.10:g.41199693G>C , CM000679.1:g.41199693G>C | GRCh37 |
| NC_000017.9:g.38453219G>C | NCBI36 |
| NG_005905.2:g.170308C>G , LRG_292:g.170308C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5431C>G | ENSP00000417241.2:p.Pro1811Ala | |
| ENST00000470026.6:c.5434C>G | ENSP00000419274.2:p.Pro1812Ala | |
| ENST00000473961.6:c.5308C>G | ENSP00000420201.2:p.Pro1770Ala | |
| ENST00000476777.6:c.5428C>G | ENSP00000417554.2:p.Pro1810Ala | |
| ENST00000477152.6:c.5356C>G | ENSP00000419988.2:p.Pro1786Ala | |
| ENST00000478531.6:c.2122C>G | ENSP00000420412.2:p.Pro708Ala | |
| ENST00000489037.2:c.5356C>G | ENSP00000420781.2:p.Pro1786Ala | |
| ENST00000493919.6:c.1984C>G | ENSP00000418819.2:p.Pro662Ala | |
| ENST00000494123.6:c.5434C>G | ENSP00000419103.2:p.Pro1812Ala | |
| ENST00000497488.2:c.4546C>G | ENSP00000418986.2:p.Pro1516Ala | |
| ENST00000618469.2:c.5434C>G | ENSP00000478114.2:p.Pro1812Ala | |
| ENST00000634433.2:c.5311C>G | ENSP00000489431.2:p.Pro1771Ala | |
| ENST00000644379.2:c.5500C>G | ENSP00000496570.2:p.Pro1834Ala | |
| ENST00000644555.2:c.1984C>G | ENSP00000494614.2:p.Pro662Ala | |
| ENST00000652672.2:c.5293C>G | ENSP00000498906.2:p.Pro1765Ala | |
| ENST00000484087.6:c.1996C>G | ENSP00000419481.2:p.Pro666Ala | |
| ENST00000700081.1:n.1317C>G | ||
| ENST00000700082.1:n.798C>G | ||
| ENST00000357654.9:c.5434C>G MANE Select | ENSP00000350283.3:p.Pro1812Ala | |
| ENST00000471181.7:c.5497C>G | ENSP00000418960.2:p.Pro1833Ala | |
| ENST00000644379.1:c.1821C>G | ||
| ENST00000352993.7:c.2008C>G | ENSP00000312236.5:p.Pro670Ala | |
| ENST00000357654.7:c.5434C>G | ENSP00000350283.3:p.Pro1812Ala | |
| ENST00000461221.5:c.*5217C>G | ENSP00000418548.1:n.*5217C>G | |
| ENST00000468300.5:c.2048C>G | ENSP00000417148.1:p.Ala683Gly | |
| ENST00000471181.6:c.5497C>G | ENSP00000418960.2:p.Pro1833Ala | |
| ENST00000491747.6:c.2122C>G | ENSP00000420705.2:p.Pro708Ala | |
| ENST00000493795.5:c.5293C>G | ENSP00000418775.1:p.Pro1765Ala | |
| ENST00000586385.5:c.364C>G | ENSP00000465818.1:p.Pro122Ala | |
| ENST00000591534.5:c.907C>G | ENSP00000467329.1:p.Pro303Ala | |
| ENST00000591849.5:c.133C>G | ENSP00000465347.1:p.Pro45Ala | |
| NM_007294.3:c.5434C>G , LRG_292t1:c.5434C>G | NP_009225.1:p.Pro1812Ala | |
| NM_007297.3:c.5293C>G | NP_009228.2:p.Pro1765Ala | |
| NM_007298.3:c.2122C>G | NP_009229.2:p.Pro708Ala | |
| NM_007299.3:c.2048C>G | NP_009230.2:p.Ala683Gly | |
| NM_007300.3:c.5497C>G | NP_009231.2:p.Pro1833Ala | |
| NR_027676.1:n.5570C>G | ||
| NM_007294.4:c.5434C>G MANE Select | NP_009225.1:p.Pro1812Ala | |
| NM_007297.4:c.5293C>G | NP_009228.2:p.Pro1765Ala | |
| NM_007299.4:c.2048C>G | NP_009230.2:p.Ala683Gly | |
| NM_007300.4:c.5497C>G | NP_009231.2:p.Pro1833Ala | |
| NR_027676.2:n.5611C>G |