Linked Data
ClinVar Variation Id:
1017589
ClinVar RCV Id:
RCV001316761
dbSNP Id:
rs1890917117
gnomAD v4:
14-77298698-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77298698T>C , CM000676.2:g.77298698T>C | GRCh38 |
| NC_000014.8:g.77765041T>C , CM000676.1:g.77765041T>C | GRCh37 |
| NC_000014.7:g.76834794T>C | NCBI36 |
| NG_008897.1:g.27185A>G , LRG_844:g.27185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.538A>G | ENSP00000451967.2:p.Ile180Val | |
| ENST00000557289.2:c.295A>G | ||
| ENST00000682247.1:c.997A>G | ENSP00000507213.1:p.Ile333Val | |
| ENST00000682382.1:c.569A>G | ||
| ENST00000682395.1:n.726A>G | ||
| ENST00000682459.1:n.661A>G | ||
| ENST00000682467.1:c.997A>G | ENSP00000508062.1:p.Ile333Val | |
| ENST00000682795.1:c.997A>G | ENSP00000507574.1:p.Ile333Val | |
| ENST00000682895.1:n.713A>G | ||
| ENST00000682955.1:n.285A>G | ||
| ENST00000683188.1:c.523A>G | ||
| ENST00000683300.1:c.110-2425A>G | ENSP00000507630.1:n.110-2425A>G | |
| ENST00000683328.1:c.109+5994A>G | ENSP00000508096.1:n.109+5994A>G | |
| ENST00000683380.1:n.661A>G | ||
| ENST00000683551.1:c.183A>G | ||
| ENST00000683828.1:c.706A>G | ||
| ENST00000684259.1:n.848A>G | ||
| ENST00000684549.1:n.548A>G | ||
| ENST00000684554.1:c.234A>G | ||
| ENST00000261534.9:c.997A>G MANE Select | ENSP00000261534.4:p.Ile333Val | |
| ENST00000261534.8:c.997A>G | ENSP00000261534.4:p.Ile333Val | |
| ENST00000452340.7:n.1020A>G | ||
| ENST00000554767.5:n.1783A>G | ||
| ENST00000557289.1:c.236A>G | ENSP00000451115.1:n.236A>G | |
| NM_013382.5:c.997A>G , LRG_844t1:c.997A>G | NP_037514.2:p.Ile333Val | |
| XM_011536675.1:c.997A>G | XP_011534977.1:p.Ile333Val | |
| XM_011536676.1:c.664A>G | XP_011534978.1:p.Ile222Val | |
| XM_011536677.1:c.548-2425A>G | XP_011534979.1:n.548-2425A>G | |
| XM_011536678.1:c.997A>G | XP_011534980.1:p.Ile333Val | |
| XM_011536679.1:c.91A>G | XP_011534981.1:p.Ile31Val | |
| XM_011536680.1:c.997A>G | XP_011534982.1:p.Ile333Val | |
| XR_943416.1:n.1200A>G | ||
| XM_011536675.2:c.997A>G | XP_011534977.1:p.Ile333Val | |
| XM_011536676.2:c.664A>G | XP_011534978.1:p.Ile222Val | |
| XM_011536677.3:c.548-2425A>G | XP_011534979.1:n.548-2425A>G | |
| XR_001750279.1:n.1197A>G | ||
| XR_001750282.1:n.1201A>G | ||
| XR_943416.3:n.1198A>G | ||
| NM_013382.6:c.997A>G | NP_037514.2:p.Ile333Val | |
| NM_013382.7:c.997A>G MANE Select | NP_037514.2:p.Ile333Val |