Linked Data
ClinVar Variation Id:
68020
ClinVar RCV Id:
RCV000058819
RCV000987193
RCV001143897
RCV001150020
RCV001143896
RCV001150018
RCV001150019
RCV001842400
RCV003317073
RCV002354253
dbSNP Id:
rs145009013
ExAC:
3:38591900 A / C
gnomAD v2:
3-38591900-A-C
gnomAD v3:
3-38550409-A-C
gnomAD v4:
3-38550409-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550409A>C , CM000665.2:g.38550409A>C | GRCh38 |
| NC_000003.11:g.38591900A>C , CM000665.1:g.38591900A>C | GRCh37 |
| NC_000003.10:g.38566904A>C | NCBI36 |
| NG_008934.1:g.104264T>G , LRG_289:g.104264T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5960T>G | ENSP00000333674.7:p.Leu1987Arg | |
| ENST00000333535.9:c.5963T>G | ENSP00000328968.4:p.Leu1988Arg | |
| ENST00000413689.6:c.5963T>G MANE Plus Clinical | ENSP00000410257.1:p.Leu1988Arg | |
| ENST00000423572.7:c.5960T>G MANE Select | ENSP00000398266.2:p.Leu1987Arg | |
| ENST00000333535.8:c.5963T>G | ENSP00000328968.4:p.Leu1988Arg | |
| ENST00000413689.5:c.5963T>G | ENSP00000410257.1:p.Leu1988Arg | |
| ENST00000414099.6:c.5909T>G | ENSP00000398962.2:p.Leu1970Arg | |
| ENST00000423572.6:c.5960T>G | ENSP00000398266.2:p.Leu1987Arg | |
| ENST00000425664.5:c.5909T>G | ENSP00000416634.1:p.Leu1970Arg | |
| ENST00000449557.6:c.5801T>G | ENSP00000413996.2:p.Leu1934Arg | |
| ENST00000450102.6:c.5801T>G | ENSP00000403355.2:p.Leu1934Arg | |
| ENST00000451551.6:c.5801T>G | ENSP00000388797.2:p.Leu1934Arg | |
| ENST00000455624.6:c.5864T>G | ENSP00000399524.2:p.Leu1955Arg | |
| NM_000335.4:c.5960T>G , LRG_289t2:c.5960T>G | NP_000326.2:p.Leu1987Arg | |
| NM_001099404.1:c.5963T>G , LRG_289t3:c.5963T>G | NP_001092874.1:p.Leu1988Arg | |
| NM_001099405.1:c.5909T>G | NP_001092875.1:p.Leu1970Arg | |
| NM_001160160.1:c.5864T>G | NP_001153632.1:p.Leu1955Arg | |
| NM_001160161.1:c.5801T>G | NP_001153633.1:p.Leu1934Arg | |
| NM_198056.2:c.5963T>G , LRG_289t1:c.5963T>G | NP_932173.1:p.Leu1988Arg | |
| XM_006713282.2:c.5963T>G | XP_006713345.1:p.Leu1988Arg | |
| XM_011533991.1:c.5960T>G | XP_011532293.1:p.Leu1987Arg | |
| XM_011533992.1:c.5834T>G | XP_011532294.1:p.Leu1945Arg | |
| NM_001354701.1:c.5906T>G | NP_001341630.1:p.Leu1969Arg | |
| XM_011533991.2:c.5960T>G | XP_011532293.1:p.Leu1987Arg | |
| XM_017007017.1:c.5801T>G | XP_016862506.1:p.Leu1934Arg | |
| NM_000335.5:c.5960T>G MANE Select | NP_000326.2:p.Leu1987Arg | |
| NM_001160160.2:c.5864T>G | NP_001153632.1:p.Leu1955Arg | |
| NM_001354701.2:c.5906T>G | NP_001341630.1:p.Leu1969Arg | |
| NM_001099404.2:c.5963T>G MANE Plus Clinical | NP_001092874.1:p.Leu1988Arg | |
| NM_001099405.2:c.5909T>G | NP_001092875.1:p.Leu1970Arg | |
| NM_001160161.2:c.5801T>G | NP_001153633.1:p.Leu1934Arg | |
| NM_198056.3:c.5963T>G | NP_932173.1:p.Leu1988Arg |