Linked Data
dbSNP Id:
rs1685655643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045850T>G , CM000664.2:g.189045850T>G | GRCh38 |
| NC_000002.11:g.189910576T>G , CM000664.1:g.189910576T>G | GRCh37 |
| NC_000002.10:g.189618821T>G | NCBI36 |
| NG_011799.1:g.139030A>C | |
| NG_011799.2:g.139030A>C | |
| NG_011799.3:g.184452A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3259A>C MANE Select | ENSP00000364000.3:p.Thr1087Pro | |
| ENST00000374866.7:c.3259A>C | ENSP00000364000.3:p.Thr1087Pro | |
| ENST00000618828.1:c.2098A>C | ENSP00000482184.1:p.Thr700Pro | |
| NM_000393.3:c.3259A>C | NP_000384.2:p.Thr1087Pro | |
| XM_011510573.1:c.3121A>C | XP_011508875.1:p.Thr1041Pro | |
| NM_000393.4:c.3259A>C | NP_000384.2:p.Thr1087Pro | |
| XM_011510573.3:c.3121A>C | XP_011508875.1:p.Thr1041Pro | |
| NM_000393.5:c.3259A>C MANE Select | NP_000384.2:p.Thr1087Pro |