Linked Data
dbSNP Id:
rs1685767053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050670C>G , CM000664.2:g.189050670C>G | GRCh38 |
| NC_000002.11:g.189915396C>G , CM000664.1:g.189915396C>G | GRCh37 |
| NC_000002.10:g.189623641C>G | NCBI36 |
| NG_011799.1:g.134210G>C | |
| NG_011799.2:g.134210G>C | |
| NG_011799.3:g.179632G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2938G>C MANE Select | ENSP00000364000.3:p.Asp980His | |
| ENST00000374866.7:c.2938G>C | ENSP00000364000.3:p.Asp980His | |
| ENST00000618828.1:c.1777G>C | ENSP00000482184.1:p.Asp593His | |
| NM_000393.3:c.2938G>C | NP_000384.2:p.Asp980His | |
| XM_011510573.1:c.2800G>C | XP_011508875.1:p.Asp934His | |
| NM_000393.4:c.2938G>C | NP_000384.2:p.Asp980His | |
| XM_011510573.3:c.2800G>C | XP_011508875.1:p.Asp934His | |
| NM_000393.5:c.2938G>C MANE Select | NP_000384.2:p.Asp980His |