Linked Data
ClinVar Variation Id:
142312
ClinVar RCV Id:
RCV000131365
RCV000255486
RCV000410761
RCV000589552
RCV001081541
RCV001354024
RCV004554713
dbSNP Id:
rs70953661
ExAC:
17:41222997 C / G
gnomAD v2:
17-41222997-C-G
gnomAD v3:
17-43070980-C-G
gnomAD v4:
17-43070980-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070980C>G , CM000679.2:g.43070980C>G | GRCh38 |
| NC_000017.10:g.41222997C>G , CM000679.1:g.41222997C>G | GRCh37 |
| NC_000017.9:g.38476523C>G | NCBI36 |
| NG_005905.2:g.147004G>C , LRG_292:g.147004G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4931G>C | ENSP00000417241.2:p.Arg1644Thr | |
| ENST00000470026.6:c.4934G>C | ENSP00000419274.2:p.Arg1645Thr | |
| ENST00000473961.6:c.4808G>C | ENSP00000420201.2:p.Arg1603Thr | |
| ENST00000476777.6:c.4928G>C | ENSP00000417554.2:p.Arg1643Thr | |
| ENST00000477152.6:c.4856G>C | ENSP00000419988.2:p.Arg1619Thr | |
| ENST00000478531.6:c.1622G>C | ENSP00000420412.2:p.Arg541Thr | |
| ENST00000489037.2:c.4856G>C | ENSP00000420781.2:p.Arg1619Thr | |
| ENST00000493919.6:c.1484G>C | ENSP00000418819.2:p.Arg495Thr | |
| ENST00000494123.6:c.4934G>C | ENSP00000419103.2:p.Arg1645Thr | |
| ENST00000497488.2:c.4046G>C | ENSP00000418986.2:p.Arg1349Thr | |
| ENST00000618469.2:c.4934G>C | ENSP00000478114.2:p.Arg1645Thr | |
| ENST00000634433.2:c.4811G>C | ENSP00000489431.2:p.Arg1604Thr | |
| ENST00000644379.2:c.5000G>C | ENSP00000496570.2:p.Arg1667Thr | |
| ENST00000644555.2:c.1484G>C | ENSP00000494614.2:p.Arg495Thr | |
| ENST00000652672.2:c.4793G>C | ENSP00000498906.2:p.Arg1598Thr | |
| ENST00000484087.6:c.1496G>C | ENSP00000419481.2:p.Arg499Thr | |
| ENST00000700182.1:c.1541G>C | ENSP00000514849.1:p.Arg514Thr | |
| ENST00000357654.9:c.4934G>C MANE Select | ENSP00000350283.3:p.Arg1645Thr | |
| ENST00000471181.7:c.4997G>C | ENSP00000418960.2:p.Arg1666Thr | |
| ENST00000644379.1:c.1321G>C | ||
| ENST00000352993.7:c.1508G>C | ENSP00000312236.5:p.Arg503Thr | |
| ENST00000357654.7:c.4934G>C | ENSP00000350283.3:p.Arg1645Thr | |
| ENST00000461221.5:c.*4717G>C | ENSP00000418548.1:n.*4717G>C | |
| ENST00000468300.5:c.1622G>C | ENSP00000417148.1:p.Arg541Thr | |
| ENST00000471181.6:c.4997G>C | ENSP00000418960.2:p.Arg1666Thr | |
| ENST00000472490.1:n.87G>C | ||
| ENST00000478531.5:c.1622G>C | ENSP00000420412.1:p.Arg541Thr | |
| ENST00000484087.5:c.1247G>C | ENSP00000419481.1:p.Arg416Thr | |
| ENST00000491747.6:c.1622G>C | ENSP00000420705.2:p.Arg541Thr | |
| ENST00000493795.5:c.4793G>C | ENSP00000418775.1:p.Arg1598Thr | |
| ENST00000493919.5:c.1484G>C | ENSP00000418819.1:p.Arg495Thr | |
| ENST00000586385.5:c.5-7029G>C | ENSP00000465818.1:n.5-7029G>C | |
| ENST00000591534.5:c.407G>C | ENSP00000467329.1:p.Arg136Thr | |
| ENST00000591849.5:c.-98-20790G>C | ENSP00000465347.1:n.-98-20790G>C | |
| NM_007294.3:c.4934G>C , LRG_292t1:c.4934G>C | NP_009225.1:p.Arg1645Thr | |
| NM_007297.3:c.4793G>C | NP_009228.2:p.Arg1598Thr | |
| NM_007298.3:c.1622G>C | NP_009229.2:p.Arg541Thr | |
| NM_007299.3:c.1622G>C | NP_009230.2:p.Arg541Thr | |
| NM_007300.3:c.4997G>C | NP_009231.2:p.Arg1666Thr | |
| NR_027676.1:n.5070G>C | ||
| NM_007294.4:c.4934G>C MANE Select | NP_009225.1:p.Arg1645Thr | |
| NM_007297.4:c.4793G>C | NP_009228.2:p.Arg1598Thr | |
| NM_007299.4:c.1622G>C | NP_009230.2:p.Arg541Thr | |
| NM_007300.4:c.4997G>C | NP_009231.2:p.Arg1666Thr | |
| NR_027676.2:n.5111G>C |