Linked Data
ClinVar Variation Id:
5128
ClinVar RCV Id:
RCV000005435
dbSNP Id:
rs104894327
PubMed:
PMID:11007475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604898A>G , CM000674.2:g.8604898A>G | GRCh38 |
| NC_000012.11:g.8757494A>G , CM000674.1:g.8757494A>G | GRCh37 |
| NC_000012.10:g.8648761A>G | NCBI36 |
| NG_011588.1:g.12949T>C , LRG_17:g.12949T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.428-6T>C | ENSP00000445691.1:n.428-6T>C | |
| ENST00000543081.6:c.427+317T>C | ENSP00000439103.2:n.427+317T>C | |
| ENST00000544516.6:c.157-561T>C | ENSP00000439538.2:n.157-561T>C | |
| ENST00000545576.2:n.853T>C | ||
| ENST00000696246.1:c.413-6T>C | ENSP00000512504.1:n.413-6T>C | |
| ENST00000696271.1:n.864T>C | ||
| ENST00000696272.1:c.437T>C | ENSP00000512515.1:p.Phe146Ser | |
| ENST00000696273.1:c.485T>C | ENSP00000512516.1:p.Phe162Ser | |
| ENST00000229335.11:c.452T>C MANE Select | ENSP00000229335.6:p.Phe151Ser | |
| ENST00000229335.10:c.452T>C | ENSP00000229335.6:p.Phe151Ser | |
| ENST00000537228.5:c.428-6T>C | ENSP00000445691.1:n.428-6T>C | |
| ENST00000543081.5:c.423+317T>C | ||
| ENST00000544516.5:c.153-561T>C | ||
| ENST00000545512.1:c.448T>C | ||
| ENST00000545576.1:n.778T>C | ||
| NM_020661.2:c.452T>C , LRG_17t1:c.452T>C | NP_065712.1:p.Phe151Ser | |
| XM_011520772.1:c.428-6T>C | XP_011519074.1:n.428-6T>C | |
| XM_011520773.1:c.427+317T>C | XP_011519075.1:n.427+317T>C | |
| NM_001330343.1:c.428-6T>C | NP_001317272.1:n.428-6T>C | |
| NM_020661.3:c.452T>C | NP_065712.1:p.Phe151Ser | |
| XM_011520773.2:c.427+317T>C | XP_011519075.1:n.427+317T>C | |
| NM_020661.4:c.452T>C MANE Select | NP_065712.1:p.Phe151Ser | |
| NM_001330343.2:c.428-6T>C | NP_001317272.1:n.428-6T>C |