Linked Data
ClinVar Variation Id:
91647
dbSNP Id:
rs398122695
ExAC:
17:41203085 G / A
gnomAD v2:
17-41203085-G-A
gnomAD v3:
17-43051068-G-A
gnomAD v4:
17-43051068-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051068G>A , CM000679.2:g.43051068G>A | GRCh38 |
| NC_000017.10:g.41203085G>A , CM000679.1:g.41203085G>A | GRCh37 |
| NC_000017.9:g.38456611G>A | NCBI36 |
| NG_005905.2:g.166916C>T , LRG_292:g.166916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5324C>T | ENSP00000417241.2:p.Pro1775Leu | |
| ENST00000470026.6:c.5327C>T | ENSP00000419274.2:p.Pro1776Leu | |
| ENST00000473961.6:c.5201C>T | ENSP00000420201.2:p.Pro1734Leu | |
| ENST00000476777.6:c.5321C>T | ENSP00000417554.2:p.Pro1774Leu | |
| ENST00000477152.6:c.5249C>T | ENSP00000419988.2:p.Pro1750Leu | |
| ENST00000478531.6:c.2015C>T | ENSP00000420412.2:p.Pro672Leu | |
| ENST00000489037.2:c.5249C>T | ENSP00000420781.2:p.Pro1750Leu | |
| ENST00000493919.6:c.1877C>T | ENSP00000418819.2:p.Pro626Leu | |
| ENST00000494123.6:c.5327C>T | ENSP00000419103.2:p.Pro1776Leu | |
| ENST00000497488.2:c.4439C>T | ENSP00000418986.2:p.Pro1480Leu | |
| ENST00000618469.2:c.5327C>T | ENSP00000478114.2:p.Pro1776Leu | |
| ENST00000634433.2:c.5204C>T | ENSP00000489431.2:p.Pro1735Leu | |
| ENST00000644379.2:c.5393C>T | ENSP00000496570.2:p.Pro1798Leu | |
| ENST00000644555.2:c.1877C>T | ENSP00000494614.2:p.Pro626Leu | |
| ENST00000652672.2:c.5186C>T | ENSP00000498906.2:p.Pro1729Leu | |
| ENST00000484087.6:c.1889C>T | ENSP00000419481.2:p.Pro630Leu | |
| ENST00000357654.9:c.5327C>T MANE Select | ENSP00000350283.3:p.Pro1776Leu | |
| ENST00000471181.7:c.5390C>T | ENSP00000418960.2:p.Pro1797Leu | |
| ENST00000644379.1:c.1714C>T | ||
| ENST00000352993.7:c.1901C>T | ENSP00000312236.5:p.Pro634Leu | |
| ENST00000357654.7:c.5327C>T | ENSP00000350283.3:p.Pro1776Leu | |
| ENST00000461221.5:c.*5110C>T | ENSP00000418548.1:n.*5110C>T | |
| ENST00000468300.5:c.2015C>T | ENSP00000417148.1:p.Pro672Leu | |
| ENST00000471181.6:c.5390C>T | ENSP00000418960.2:p.Pro1797Leu | |
| ENST00000491747.6:c.2015C>T | ENSP00000420705.2:p.Pro672Leu | |
| ENST00000493795.5:c.5186C>T | ENSP00000418775.1:p.Pro1729Leu | |
| ENST00000586385.5:c.257C>T | ENSP00000465818.1:p.Pro86Leu | |
| ENST00000591534.5:c.800C>T | ENSP00000467329.1:p.Pro267Leu | |
| ENST00000591849.5:c.-98-878C>T | ENSP00000465347.1:n.-98-878C>T | |
| NM_007294.3:c.5327C>T , LRG_292t1:c.5327C>T | NP_009225.1:p.Pro1776Leu | |
| NM_007297.3:c.5186C>T | NP_009228.2:p.Pro1729Leu | |
| NM_007298.3:c.2015C>T | NP_009229.2:p.Pro672Leu | |
| NM_007299.3:c.2015C>T | NP_009230.2:p.Pro672Leu | |
| NM_007300.3:c.5390C>T | NP_009231.2:p.Pro1797Leu | |
| NR_027676.1:n.5463C>T | ||
| NM_007294.4:c.5327C>T MANE Select | NP_009225.1:p.Pro1776Leu | |
| NM_007297.4:c.5186C>T | NP_009228.2:p.Pro1729Leu | |
| NM_007299.4:c.2015C>T | NP_009230.2:p.Pro672Leu | |
| NM_007300.4:c.5390C>T | NP_009231.2:p.Pro1797Leu | |
| NR_027676.2:n.5504C>T |