Linked Data
ClinVar Variation Id:
306295
ClinVar RCV Id:
RCV000346165
dbSNP Id:
rs143992505
ExAC:
11:821839 C / T
gnomAD v2:
11-821839-C-T
gnomAD v3:
11-821839-C-T
gnomAD v4:
11-821839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.821839C>T , CM000673.2:g.821839C>T | GRCh38 |
| NC_000011.9:g.821839C>T , CM000673.1:g.821839C>T | GRCh37 |
| NC_000011.8:g.811839C>T | NCBI36 |
| NG_023394.1:g.7939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.399C>T MANE Select | ENSP00000337701.4:p.Asn133= | |
| ENST00000336615.8:c.399C>T | ENSP00000337701.4:p.Asn133= | |
| ENST00000525250.5:n.1005C>T | ||
| ENST00000534561.1:n.66C>T | ||
| ENST00000617551.1:c.-852C>T | ENSP00000481602.1:n.-852C>T | |
| NM_020376.3:c.399C>T | NP_065109.1:p.Asn133= | |
| XM_006718265.2:c.399C>T | XP_006718328.1:p.Asn133= | |
| XM_006718266.2:c.399C>T | XP_006718329.1:p.Asn133= | |
| XM_006718265.3:c.399C>T | XP_006718328.1:p.Asn133= | |
| XM_006718266.3:c.399C>T | XP_006718329.1:p.Asn133= | |
| XM_017018028.1:c.399C>T | XP_016873517.1:p.Asn133= | |
| XM_024448618.1:c.399C>T | XP_024304386.1:p.Asn133= | |
| NM_020376.4:c.399C>T MANE Select | NP_065109.1:p.Asn133= |