Linked Data
ClinVar Variation Id:
381523
dbSNP Id:
rs375401970
ExAC:
2:27535635 G / C
gnomAD v2:
2-27535635-G-C
gnomAD v3:
2-27312768-G-C
gnomAD v4:
2-27312768-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312768G>C , CM000664.2:g.27312768G>C | GRCh38 |
| NC_000002.11:g.27535635G>C , CM000664.1:g.27535635G>C | GRCh37 |
| NC_000002.10:g.27389139G>C | NCBI36 |
| NG_008075.1:g.14797C>G | |
| NG_033055.1:g.496C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.191C>G MANE Select | ENSP00000369383.1:p.Pro64Arg | |
| ENST00000233545.6:c.191C>G | ENSP00000233545.2:p.Pro64Arg | |
| ENST00000357186.10:c.23C>G | ENSP00000349713.6:p.Pro8Arg | |
| ENST00000380044.5:c.191C>G | ENSP00000369383.1:p.Pro64Arg | |
| ENST00000402310.5:c.191C>G | ENSP00000383955.1:p.Pro64Arg | |
| ENST00000402722.5:c.156C>G | ENSP00000386000.1:p.Pro52= | |
| ENST00000403262.6:c.191C>G | ENSP00000385671.1:p.Pro64Arg | |
| ENST00000405076.5:c.186+226C>G | ENSP00000385175.1:n.186+226C>G | |
| ENST00000405983.5:c.236C>G | ENSP00000384586.1:p.Pro79Arg | |
| ENST00000415514.5:c.232C>G | ENSP00000388043.1:p.Leu78Val | |
| ENST00000426513.6:c.156C>G | ENSP00000403824.2:p.Pro52= | |
| ENST00000428910.5:c.113C>G | ENSP00000405235.1:p.Pro38Arg | |
| ENST00000430991.5:c.121C>G | ||
| ENST00000475085.1:n.219C>G | ||
| ENST00000616446.1:n.168C>G | ||
| ENST00000616707.1:n.620C>G | ||
| ENST00000617583.4:n.217C>G | ||
| ENST00000621183.4:n.247C>G | ||
| ENST00000621470.4:n.207C>G | ||
| ENST00000622003.4:n.364C>G | ||
| NM_002437.4:c.191C>G | NP_002428.1:p.Pro64Arg | |
| XM_005264326.2:c.191C>G | XP_005264383.1:p.Pro64Arg | |
| XM_005264327.2:c.32C>G | XP_005264384.1:p.Pro11Arg | |
| XM_006712021.2:c.143C>G | XP_006712084.1:p.Pro48Arg | |
| XM_005264326.4:c.191C>G | XP_005264383.1:p.Pro64Arg | |
| XM_006712021.3:c.143C>G | XP_006712084.1:p.Pro48Arg | |
| XM_017004150.1:c.173C>G | XP_016859639.1:p.Pro58Arg | |
| XM_017004151.1:c.143C>G | XP_016859640.1:p.Pro48Arg | |
| XM_017004152.1:c.32C>G | XP_016859641.1:p.Pro11Arg | |
| XM_024452913.1:c.143C>G | XP_024308681.1:p.Pro48Arg | |
| NM_002437.5:c.191C>G MANE Select | NP_002428.1:p.Pro64Arg |