Linked Data
ClinVar Variation Id:
225375
ClinVar RCV Id:
RCV000490342
RCV000505510
RCV001853385
RCV002283467
RCV002503834
RCV004530262
RCV001252673
dbSNP Id:
rs532203068
ExAC:
13:20763138 T / C
gnomAD v2:
13-20763138-T-C
gnomAD v3:
13-20188999-T-C
gnomAD v4:
13-20188999-T-C
ERepo:
CA6904233/MONDO:0019497/005
PubMed:
PMID:20497192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188999T>C , CM000675.2:g.20188999T>C | GRCh38 |
| NC_000013.10:g.20763138T>C , CM000675.1:g.20763138T>C | GRCh37 |
| NC_000013.9:g.19661138T>C | NCBI36 |
| NG_008358.1:g.8977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.583A>G | ENSP00000372295.1:p.Met195Val | |
| ENST00000382848.5:c.583A>G MANE Select | ENSP00000372299.4:p.Met195Val | |
| ENST00000382844.1:c.583A>G | ENSP00000372295.1:p.Met195Val | |
| ENST00000382848.4:c.583A>G | ENSP00000372299.4:p.Met195Val | |
| NM_004004.5:c.583A>G | NP_003995.2:p.Met195Val | |
| XM_011535049.1:c.583A>G | XP_011533351.1:p.Met195Val | |
| XM_011535049.2:c.583A>G | XP_011533351.1:p.Met195Val | |
| NM_004004.6:c.583A>G MANE Select | NP_003995.2:p.Met195Val |