Linked Data
ClinVar Variation Id:
16902
dbSNP Id:
rs121912974
ExAC:
7:75612866 G / C
gnomAD v2:
7-75612866-G-C
gnomAD v3:
7-75983548-G-C
gnomAD v4:
7-75983548-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75983548G>C , CM000669.2:g.75983548G>C | GRCh38 |
| NC_000007.13:g.75612866G>C , CM000669.1:g.75612866G>C | GRCh37 |
| NC_000007.12:g.75450802G>C | NCBI36 |
| NG_008930.1:g.73447G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.634G>C | ENSP00000516446.1:p.Ala212Pro | |
| ENST00000706544.1:c.760G>C | ENSP00000516442.1:p.Ala254Pro | |
| ENST00000706545.1:c.859G>C | ENSP00000516443.1:p.Ala287Pro | |
| ENST00000706546.1:c.859G>C | ENSP00000516444.1:p.Ala287Pro | |
| ENST00000706547.1:c.859G>C | ENSP00000516445.1:p.Ala287Pro | |
| ENST00000461988.6:c.859G>C MANE Select | ENSP00000419970.1:p.Ala287Pro | |
| ENST00000394893.5:c.859G>C | ENSP00000378355.1:p.Ala287Pro | |
| ENST00000412064.6:c.*20G>C | ENSP00000404731.2:n.*20G>C | |
| ENST00000439269.1:c.73G>C | ENSP00000412490.1:p.Ala25Pro | |
| ENST00000447222.5:c.1010G>C | ||
| ENST00000454934.5:c.*164G>C | ENSP00000414263.1:n.*164G>C | |
| ENST00000460892.1:n.459G>C | ||
| ENST00000461988.5:c.859G>C | ENSP00000419970.1:p.Ala287Pro | |
| ENST00000487247.5:n.113G>C | ||
| ENST00000496888.5:n.233G>C | ||
| NM_000941.2:c.859G>C | NP_000932.3:p.Ala287Pro | |
| NM_000941.3:c.859G>C | NP_000932.3:p.Ala287Pro | |
| NM_001367562.1:c.859G>C | NP_001354491.1:p.Ala287Pro | |
| NM_001382655.1:c.913G>C | NP_001369584.1:p.Ala305Pro | |
| NM_001382657.1:c.859G>C | NP_001369586.1:p.Ala287Pro | |
| NM_001382658.1:c.859G>C | NP_001369587.1:p.Ala287Pro | |
| NM_001382659.1:c.859G>C | NP_001369588.1:p.Ala287Pro | |
| NM_001382662.1:c.859G>C | NP_001369591.1:p.Ala287Pro | |
| NM_001367562.3:c.850G>C | NP_001354491.2:p.Ala284Pro | |
| NM_001382655.3:c.904G>C | NP_001369584.2:p.Ala302Pro | |
| NM_001382657.2:c.850G>C | NP_001369586.2:p.Ala284Pro | |
| NM_001382658.3:c.850G>C | NP_001369587.2:p.Ala284Pro | |
| NM_001382659.3:c.850G>C | NP_001369588.2:p.Ala284Pro | |
| NM_001382662.3:c.850G>C | NP_001369591.2:p.Ala284Pro | |
| NM_001395413.1:c.850G>C MANE Select | NP_001382342.1:p.Ala284Pro |