Linked Data
ClinVar Variation Id:
205475
dbSNP Id:
rs141088742
ExAC:
14:29237079 C / G
gnomAD v2:
14-29237079-C-G
gnomAD v3:
14-28767873-C-G
gnomAD v4:
14-28767873-C-G
ERepo:
CA314590/MONDO:0100040/035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767873C>G , CM000676.2:g.28767873C>G | GRCh38 |
| NC_000014.8:g.29237079C>G , CM000676.1:g.29237079C>G | GRCh37 |
| NC_000014.7:g.28306830C>G | NCBI36 |
| NG_009367.1:g.5793C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.594C>G | ENSP00000516406.1:p.Pro198= | |
| ENST00000313071.7:c.594C>G MANE Select | ENSP00000339004.3:p.Pro198= | |
| ENST00000313071.6:c.594C>G | ENSP00000339004.3:p.Pro198= | |
| NM_005249.4:c.594C>G | NP_005240.3:p.Pro198= | |
| NM_005249.5:c.594C>G MANE Select | NP_005240.3:p.Pro198= |