Linked Data
ClinVar Variation Id:
10140
ClinVar RCV Id:
RCV000010853
dbSNP Id:
rs137852369
PubMed:
PMID:2106480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904083T>C , CM000685.2:g.154904083T>C | GRCh38 |
| NC_000023.10:g.154132358T>C , CM000685.1:g.154132358T>C | GRCh37 |
| NC_000023.9:g.153785552T>C | NCBI36 |
| NG_011403.1:g.123641A>G | |
| NG_011403.2:g.123641A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5821A>G MANE Select | ENSP00000353393.4:p.Asn1941Asp | |
| ENST00000360256.8:c.5821A>G | ENSP00000353393.4:p.Asn1941Asp | |
| NM_000132.3:c.5821A>G | NP_000123.1:p.Asn1941Asp | |
| XM_011531126.1:c.5716A>G | XP_011529428.1:p.Asn1906Asp | |
| NM_000132.4:c.5821A>G MANE Select | NP_000123.1:p.Asn1941Asp |