Linked Data
dbSNP Id:
rs113211215
ExAC:
11:124742866 A / C
gnomAD v2:
11-124742866-A-C
gnomAD v3:
11-124872970-A-C
gnomAD v4:
11-124872970-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872970A>C , CM000673.2:g.124872970A>C | GRCh38 |
| NC_000011.9:g.124742866A>C , CM000673.1:g.124742866A>C | GRCh37 |
| NC_000011.8:g.124248076A>C | NCBI36 |
| NG_016214.1:g.12562A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1417A>C MANE Select | ENSP00000380903.1:p.Arg473= | |
| ENST00000397801.5:c.1417A>C | ENSP00000380903.1:p.Arg473= | |
| ENST00000538940.5:c.1351A>C | ENSP00000441797.1:p.Arg451= | |
| NM_022370.3:c.1417A>C | NP_071765.2:p.Arg473= | |
| XM_011542953.1:c.2389A>C | XP_011541255.1:p.Arg797= | |
| XM_017018122.1:c.1351A>C | XP_016873611.1:p.Arg451= | |
| NM_022370.4:c.1417A>C MANE Select | NP_071765.2:p.Arg473= |