Linked Data
ClinVar Variation Id:
10305
ClinVar RCV Id:
RCV000011018
dbSNP Id:
rs137852454
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902053T>C , CM000685.2:g.154902053T>C | GRCh38 |
| NC_000023.10:g.154130328T>C , CM000685.1:g.154130328T>C | GRCh37 |
| NC_000023.9:g.153783522T>C | NCBI36 |
| NG_011403.1:g.125671A>G | |
| NG_011403.2:g.125671A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6113A>G MANE Select | ENSP00000353393.4:p.Asn2038Ser | |
| ENST00000360256.8:c.6113A>G | ENSP00000353393.4:p.Asn2038Ser | |
| NM_000132.3:c.6113A>G | NP_000123.1:p.Asn2038Ser | |
| XM_011531126.1:c.6008A>G | XP_011529428.1:p.Asn2003Ser | |
| NM_000132.4:c.6113A>G MANE Select | NP_000123.1:p.Asn2038Ser |