Linked Data
ClinVar Variation Id:
8068
ClinVar RCV Id:
RCV000008534
dbSNP Id:
rs121909251
PubMed:
PMID:10866301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110719739A>G , CM000675.2:g.110719739A>G | GRCh38 |
| NC_000013.10:g.111372086A>G , CM000675.1:g.111372086A>G | GRCh37 |
| NC_000013.9:g.110170087A>G | NCBI36 |
| NG_012197.1:g.12004A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375775.4:c.440A>G | ENSP00000364930.3:p.Asn147Ser | |
| ENST00000333219.9:c.647A>G MANE Select | ENSP00000328436.8:p.Asn216Ser | |
| ENST00000333219.8:c.647A>G | ENSP00000328436.7:p.Asn216Ser | |
| ENST00000338450.7:c.515A>G | ENSP00000345202.7:p.Asn172Ser | |
| ENST00000375774.3:c.1076A>G | ENSP00000364929.3:p.Asn359Ser | |
| ENST00000375775.3:c.440A>G | ENSP00000364930.3:p.Asn147Ser | |
| NM_001267728.1:c.596A>G | NP_001254657.1:p.Asn199Ser | |
| NM_005537.5:c.1076A>G | NP_005528.4:p.Asn359Ser | |
| NM_198217.2:c.515A>G | NP_937860.1:p.Asn172Ser | |
| NM_198218.2:c.440A>G | NP_937861.1:p.Asn147Ser | |
| NM_198219.2:c.647A>G | NP_937862.1:p.Asn216Ser | |
| NM_198219.3:c.647A>G MANE Select | NP_937862.1:p.Asn216Ser | |
| NM_198217.3:c.515A>G | NP_937860.1:p.Asn172Ser | |
| NM_198218.3:c.440A>G | NP_937861.1:p.Asn147Ser |