Linked Data
ClinVar Variation Id:
2197994
ClinVar RCV Id:
RCV002629047
dbSNP Id:
rs751666909
ExAC:
11:819856 C / T
gnomAD v2:
11-819856-C-T
gnomAD v3:
11-819856-C-T
gnomAD v4:
11-819856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.819856C>T , CM000673.2:g.819856C>T | GRCh38 |
| NC_000011.9:g.819856C>T , CM000673.1:g.819856C>T | GRCh37 |
| NC_000011.8:g.809856C>T | NCBI36 |
| NG_023394.1:g.5956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.138C>T MANE Select | ENSP00000337701.4:p.Ala46= | |
| ENST00000336615.8:c.138C>T | ENSP00000337701.4:p.Ala46= | |
| NM_020376.3:c.138C>T | NP_065109.1:p.Ala46= | |
| XM_006718265.2:c.138C>T | XP_006718328.1:p.Ala46= | |
| XM_006718266.2:c.138C>T | XP_006718329.1:p.Ala46= | |
| XM_006718265.3:c.138C>T | XP_006718328.1:p.Ala46= | |
| XM_006718266.3:c.138C>T | XP_006718329.1:p.Ala46= | |
| XM_017018028.1:c.138C>T | XP_016873517.1:p.Ala46= | |
| XM_024448618.1:c.138C>T | XP_024304386.1:p.Ala46= | |
| NM_020376.4:c.138C>T MANE Select | NP_065109.1:p.Ala46= |