Linked Data
ClinVar Variation Id:
402194
ClinVar RCV Id:
RCV000454201
dbSNP Id:
rs1060499766
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306344A>C , CM000676.2:g.77306344A>C | GRCh38 |
| NC_000014.8:g.77772687A>C , CM000676.1:g.77772687A>C | GRCh37 |
| NC_000014.7:g.76842440A>C | NCBI36 |
| NG_008897.1:g.19539T>G , LRG_844:g.19539T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.160T>G | ||
| ENST00000556394.2:c.249-1544T>G | ENSP00000451967.2:n.249-1544T>G | |
| ENST00000556880.6:n.364T>G | ||
| ENST00000682247.1:c.431T>G | ENSP00000507213.1:p.Met144Arg | |
| ENST00000682382.1:c.379T>G | ||
| ENST00000682395.1:n.160T>G | ||
| ENST00000682459.1:n.102+58T>G | ||
| ENST00000682467.1:c.431T>G | ENSP00000508062.1:p.Met144Arg | |
| ENST00000682795.1:c.431T>G | ENSP00000507574.1:p.Met144Arg | |
| ENST00000682895.1:n.147T>G | ||
| ENST00000682955.1:n.102+58T>G | ||
| ENST00000683188.1:c.226T>G | ||
| ENST00000683380.1:n.102+58T>G | ||
| ENST00000683828.1:c.300T>G | ||
| ENST00000684066.1:n.126T>G | ||
| ENST00000684102.1:n.177T>G | ||
| ENST00000684259.1:n.282T>G | ||
| ENST00000684479.1:n.98T>G | ||
| ENST00000684549.1:n.160T>G | ||
| ENST00000684600.1:c.245T>G | ||
| ENST00000684670.1:n.98T>G | ||
| ENST00000684746.1:n.128T>G | ||
| ENST00000261534.9:c.431T>G MANE Select | ENSP00000261534.4:p.Met144Arg | |
| ENST00000261534.8:c.431T>G | ENSP00000261534.4:p.Met144Arg | |
| ENST00000452340.7:n.454T>G | ||
| ENST00000553863.5:n.102+58T>G | ||
| ENST00000554948.1:c.158T>G | ENSP00000452060.1:p.Met53Arg | |
| ENST00000555675.5:n.147T>G | ||
| ENST00000555788.5:n.265T>G | ||
| ENST00000556326.5:c.*97T>G | ENSP00000450630.1:n.*97T>G | |
| ENST00000556880.5:n.364T>G | ||
| ENST00000557525.1:n.521T>G | ||
| NM_013382.5:c.431T>G , LRG_844t1:c.431T>G | NP_037514.2:p.Met144Arg | |
| XM_011536675.1:c.431T>G | XP_011534977.1:p.Met144Arg | |
| XM_011536676.1:c.98T>G | XP_011534978.1:p.Met33Arg | |
| XM_011536677.1:c.431T>G | XP_011534979.1:p.Met144Arg | |
| XM_011536678.1:c.431T>G | XP_011534980.1:p.Met144Arg | |
| XM_011536680.1:c.431T>G | XP_011534982.1:p.Met144Arg | |
| XR_943416.1:n.634T>G | ||
| XM_011536675.2:c.431T>G | XP_011534977.1:p.Met144Arg | |
| XM_011536676.2:c.98T>G | XP_011534978.1:p.Met33Arg | |
| XM_011536677.3:c.431T>G | XP_011534979.1:p.Met144Arg | |
| XR_001750279.1:n.631T>G | ||
| XR_001750282.1:n.635T>G | ||
| XR_943416.3:n.632T>G | ||
| NM_013382.6:c.431T>G | NP_037514.2:p.Met144Arg | |
| NM_013382.7:c.431T>G MANE Select | NP_037514.2:p.Met144Arg |