Linked Data
ClinVar Variation Id:
210216
dbSNP Id:
rs754498075
ExAC:
7:99703607 T / C
gnomAD v2:
7-99703607-T-C
gnomAD v3:
7-100105984-T-C
gnomAD v4:
7-100105984-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100105984T>C , CM000669.2:g.100105984T>C | GRCh38 |
| NC_000007.13:g.99703607T>C , CM000669.1:g.99703607T>C | GRCh37 |
| NC_000007.12:g.99541543T>C | NCBI36 |
| NG_016312.1:g.9478T>C | |
| NG_029454.1:g.18875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.955T>C | ENSP00000393723.2:p.Cys319Arg | |
| ENST00000495154.2:n.1214T>C | ||
| ENST00000713591.1:c.955T>C | ENSP00000518888.1:p.Cys319Arg | |
| ENST00000359593.9:c.955T>C MANE Select | ENSP00000352603.4:p.Cys319Arg | |
| ENST00000359593.8:c.955T>C | ENSP00000352603.4:p.Cys319Arg | |
| ENST00000416938.5:c.844T>C | ||
| ENST00000421755.5:c.955T>C | ENSP00000412185.1:p.Cys319Arg | |
| ENST00000422582.5:c.571T>C | ENSP00000406676.1:p.Cys191Arg | |
| ENST00000429084.5:c.976T>C | ENSP00000403663.1:p.Cys326Arg | |
| ENST00000438383.5:c.751T>C | ENSP00000401613.1:p.Cys251Arg | |
| ENST00000445208.5:c.*564T>C | ENSP00000400598.1:n.*564T>C | |
| ENST00000445295.1:c.132T>C | ||
| ENST00000446007.5:c.*177T>C | ENSP00000396928.1:n.*177T>C | |
| ENST00000450807.5:c.211T>C | ENSP00000391585.1:p.Cys71Arg | |
| ENST00000463195.5:n.962T>C | ||
| ENST00000489387.1:n.8T>C | ||
| NM_004722.3:c.955T>C | NP_004713.2:p.Cys319Arg | |
| XM_005250689.3:c.976T>C | XP_005250746.1:p.Cys326Arg | |
| XM_005250690.3:c.751T>C | XP_005250747.1:p.Cys251Arg | |
| XM_006716175.2:c.976T>C | XP_006716238.1:p.Cys326Arg | |
| XM_011516685.1:c.976T>C | XP_011514987.1:p.Cys326Arg | |
| XM_011516686.1:c.571T>C | XP_011514988.1:p.Cys191Arg | |
| XM_011516687.1:c.280T>C | XP_011514989.1:p.Cys94Arg | |
| NM_001363671.1:c.976T>C | NP_001350600.1:p.Cys326Arg | |
| XM_005250689.4:c.976T>C | XP_005250746.1:p.Cys326Arg | |
| XM_005250690.4:c.751T>C | XP_005250747.1:p.Cys251Arg | |
| XM_006716175.4:c.976T>C | XP_006716238.1:p.Cys326Arg | |
| XM_017012790.2:c.571T>C | XP_016868279.1:p.Cys191Arg | |
| XM_017012791.2:c.280T>C | XP_016868280.1:p.Cys94Arg | |
| XM_024446995.1:c.955T>C | XP_024302763.1:p.Cys319Arg | |
| XM_024446996.1:c.280T>C | XP_024302764.1:p.Cys94Arg | |
| NM_004722.4:c.955T>C MANE Select | NP_004713.2:p.Cys319Arg | |
| NM_001363671.2:c.976T>C | NP_001350600.1:p.Cys326Arg |