Linked Data
dbSNP Id:
rs781499990
ExAC:
6:64940563 C / G
gnomAD v2:
6-64940563-C-G
gnomAD v4:
6-64230670-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64230670C>G , CM000668.2:g.64230670C>G | GRCh38 |
| NC_000006.11:g.64940563C>G , CM000668.1:g.64940563C>G | GRCh37 |
| NC_000006.10:g.64998522C>G | NCBI36 |
| NG_023443.1:g.1481556G>C | |
| NG_023443.2:g.1481556G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6346G>C MANE Select | ENSP00000424243.1:p.Ala2116Pro | |
| ENST00000370616.6:c.6346G>C | ENSP00000359650.2:p.Ala2116Pro | |
| ENST00000370618.7:c.6346G>C | ENSP00000359652.4:p.Ala2116Pro | |
| ENST00000370621.7:c.6346G>C | ENSP00000359655.3:p.Ala2116Pro | |
| ENST00000503581.5:c.6346G>C | ENSP00000424243.1:p.Ala2116Pro | |
| NM_001142800.1:c.6346G>C | NP_001136272.1:p.Ala2116Pro | |
| NM_001292009.1:c.6346G>C | NP_001278938.1:p.Ala2116Pro | |
| NM_001142800.2:c.6346G>C MANE Select | NP_001136272.1:p.Ala2116Pro | |
| NM_001292009.2:c.6346G>C | NP_001278938.1:p.Ala2116Pro |