Linked Data
ClinVar Variation Id:
44607
ClinVar RCV Id:
RCV000037646
RCV000680297
RCV000621552
RCV000654924
RCV000678902
RCV001813328
RCV002496598
RCV004534799
dbSNP Id:
rs397516805
ExAC:
12:112891058 A / G
gnomAD v2:
12-112891058-A-G
gnomAD v3:
12-112453254-A-G
gnomAD v4:
12-112453254-A-G
ERepo:
CA134665/MONDO:0021060/004
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112453254A>G , CM000674.2:g.112453254A>G | GRCh38 |
| NC_000012.11:g.112891058A>G , CM000674.1:g.112891058A>G | GRCh37 |
| NC_000012.10:g.111375441A>G | NCBI36 |
| NG_007459.1:g.39523A>G , LRG_614:g.39523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.392A>G | ENSP00000491593.2:p.Lys131Arg | |
| ENST00000685487.1:c.392A>G | ENSP00000508503.1:p.Lys131Arg | |
| ENST00000687906.1:c.392A>G | ENSP00000509536.1:p.Lys131Arg | |
| ENST00000688597.1:c.392A>G | ENSP00000510628.1:p.Lys131Arg | |
| ENST00000690210.1:c.392A>G | ENSP00000509272.1:p.Lys131Arg | |
| ENST00000692624.1:c.392A>G | ENSP00000508953.1:p.Lys131Arg | |
| ENST00000351677.7:c.392A>G MANE Select | ENSP00000340944.3:p.Lys131Arg | |
| ENST00000639857.1:c.392A>G | ENSP00000491593.1:p.Lys131Arg | |
| ENST00000351677.6:c.392A>G | ENSP00000340944.2:p.Lys131Arg | |
| ENST00000392597.5:c.392A>G | ENSP00000376376.1:p.Lys131Arg | |
| ENST00000635625.1:c.392A>G | ENSP00000489597.1:p.Lys131Arg | |
| NM_002834.3:c.392A>G , LRG_614t1:c.392A>G | NP_002825.3:p.Lys131Arg | |
| NM_080601.1:c.392A>G | NP_542168.1:p.Lys131Arg | |
| XM_006719526.1:c.392A>G | XP_006719589.1:p.Lys131Arg | |
| XM_006719527.1:c.392A>G | XP_006719590.1:p.Lys131Arg | |
| XM_011538613.1:c.389A>G | XP_011536915.1:p.Lys130Arg | |
| NM_001330437.1:c.392A>G | NP_001317366.1:p.Lys131Arg | |
| NM_002834.4:c.392A>G | NP_002825.3:p.Lys131Arg | |
| NM_080601.2:c.392A>G | NP_542168.1:p.Lys131Arg | |
| XM_011538613.2:c.389A>G | XP_011536915.1:p.Lys130Arg | |
| XM_017019722.1:c.389A>G | XP_016875211.1:p.Lys130Arg | |
| NM_001330437.2:c.392A>G | NP_001317366.1:p.Lys131Arg | |
| NM_001374625.1:c.389A>G | NP_001361554.1:p.Lys130Arg | |
| NM_002834.5:c.392A>G MANE Select | NP_002825.3:p.Lys131Arg | |
| NM_080601.3:c.392A>G | NP_542168.1:p.Lys131Arg |