Linked Data
dbSNP Id:
rs753024310
ExAC:
22:20780167 C / G
gnomAD v2:
22-20780167-C-G
gnomAD v4:
22-20425880-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425880C>G , CM000684.2:g.20425880C>G | GRCh38 |
| NC_000022.10:g.20780167C>G , CM000684.1:g.20780167C>G | GRCh37 |
| NC_000022.9:g.19110167C>G | NCBI36 |
| NG_031868.2:g.16980G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2096G>C MANE Select | ENSP00000477564.2:p.Arg699Pro | |
| ENST00000615031.4:c.2111G>C | ENSP00000479389.1:p.Arg704Pro | |
| ENST00000622235.4:c.2096G>C | ENSP00000477564.1:p.Arg699Pro | |
| ENST00000623402.1:c.2111G>C | ENSP00000485276.1:p.Arg704Pro | |
| NM_153334.6:c.2111G>C | NP_699165.3:p.Arg704Pro | |
| NM_182895.4:c.2096G>C | NP_878315.2:p.Arg699Pro | |
| NM_153334.7:c.2111G>C | NP_699165.3:p.Arg704Pro | |
| NM_182895.5:c.2096G>C MANE Select | NP_878315.2:p.Arg699Pro |