Linked Data
ClinVar Variation Id:
10237
ClinVar RCV Id:
RCV000010950
dbSNP Id:
rs137852429
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953903T>C , CM000685.2:g.154953903T>C | GRCh38 |
| NC_000023.10:g.154182178T>C , CM000685.1:g.154182178T>C | GRCh37 |
| NC_000023.9:g.153835372T>C | NCBI36 |
| NG_011403.1:g.73821A>G | |
| NG_011403.2:g.73821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1892A>G MANE Select | ENSP00000353393.4:p.Asn631Ser | |
| ENST00000647125.1:c.*1768A>G | ENSP00000496062.1:n.*1768A>G | |
| ENST00000360256.8:c.1892A>G | ENSP00000353393.4:p.Asn631Ser | |
| NM_000132.3:c.1892A>G | NP_000123.1:p.Asn631Ser | |
| XM_011531126.1:c.1787A>G | XP_011529428.1:p.Asn596Ser | |
| NM_000132.4:c.1892A>G MANE Select | NP_000123.1:p.Asn631Ser |