Linked Data
dbSNP Id:
rs767493560
ExAC:
5:149452867 T / C
gnomAD v2:
5-149452867-T-C
gnomAD v3:
5-150073304-T-C
gnomAD v4:
5-150073304-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150073304T>C , CM000667.2:g.150073304T>C | GRCh38 |
| NC_000005.9:g.149452867T>C , CM000667.1:g.149452867T>C | GRCh37 |
| NC_000005.8:g.149433060T>C | NCBI36 |
| NG_012303.1:g.45069A>G | |
| NG_012303.2:g.45069A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.1079A>G MANE Select | ENSP00000501699.1:p.Tyr360Cys | |
| ENST00000286301.7:c.1079A>G | ENSP00000286301.3:p.Tyr360Cys | |
| ENST00000504875.5:c.1079A>G | ENSP00000422212.1:p.Tyr360Cys | |
| ENST00000543093.1:c.890-2733A>G | ENSP00000445282.1:n.890-2733A>G | |
| NM_001288705.1:c.1079A>G | NP_001275634.1:p.Tyr360Cys | |
| NM_005211.3:c.1079A>G | NP_005202.2:p.Tyr360Cys | |
| NR_109969.1:n.1292A>G | ||
| NM_001288705.2:c.1079A>G | NP_001275634.1:p.Tyr360Cys | |
| NM_001349736.1:c.1079A>G | NP_001336665.1:p.Tyr360Cys | |
| NM_001288705.3:c.1079A>G MANE Select | NP_001275634.1:p.Tyr360Cys | |
| NM_001375320.1:c.1079A>G | NP_001362249.1:p.Tyr360Cys | |
| NM_001375321.1:c.635A>G | NP_001362250.1:p.Tyr212Cys | |
| NR_164679.1:n.1135A>G | ||
| NM_001349736.2:c.1079A>G | NP_001336665.1:p.Tyr360Cys | |
| NM_005211.4:c.1079A>G | NP_005202.2:p.Tyr360Cys | |
| NR_109969.2:n.1206A>G |