Linked Data
ClinVar Variation Id:
230531
ClinVar RCV Id:
RCV000220447
dbSNP Id:
rs775941240
ExAC:
16:68853313 A / C
gnomAD v2:
16-68853313-A-C
gnomAD v4:
16-68819410-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819410A>C , CM000678.2:g.68819410A>C | GRCh38 |
| NC_000016.9:g.68853313A>C , CM000678.1:g.68853313A>C | GRCh37 |
| NC_000016.8:g.67410814A>C | NCBI36 |
| NG_008021.1:g.87119A>C , LRG_301:g.87119A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1696A>C MANE Select | ENSP00000261769.4:p.Ile566Leu | |
| ENST00000261769.9:c.1696A>C | ENSP00000261769.4:p.Ile566Leu | |
| ENST00000422392.6:c.1513A>C | ENSP00000414946.2:p.Ile505Leu | |
| ENST00000562836.5:n.1767A>C | ||
| ENST00000566510.5:c.*362A>C | ENSP00000458139.1:n.*362A>C | |
| ENST00000566612.5:c.1566-2591A>C | ENSP00000454782.1:n.1566-2591A>C | |
| ENST00000611625.4:c.1759A>C | ENSP00000481063.1:p.Ile587Leu | |
| ENST00000612417.4:c.1696A>C | ENSP00000478360.1:p.Ile566Leu | |
| ENST00000621016.4:c.1696A>C | ENSP00000480664.1:p.Ile566Leu | |
| NM_004360.3:c.1696A>C , LRG_301t1:c.1696A>C | NP_004351.1:p.Ile566Leu | |
| XM_011523488.1:c.961A>C | XP_011521790.1:p.Ile321Leu | |
| XM_011523489.1:c.961A>C | XP_011521791.1:p.Ile321Leu | |
| NM_001317184.1:c.1513A>C | NP_001304113.1:p.Ile505Leu | |
| NM_001317185.1:c.148A>C | NP_001304114.1:p.Ile50Leu | |
| NM_001317186.1:c.-254-2591A>C | NP_001304115.1:n.-254-2591A>C | |
| NM_004360.4:c.1696A>C | NP_004351.1:p.Ile566Leu | |
| NM_004360.5:c.1696A>C MANE Select | NP_004351.1:p.Ile566Leu | |
| NM_001317184.2:c.1513A>C | NP_001304113.1:p.Ile505Leu | |
| NM_001317185.2:c.148A>C | NP_001304114.1:p.Ile50Leu | |
| NM_001317186.2:c.-254-2591A>C | NP_001304115.1:n.-254-2591A>C |