Linked Data
ClinVar Variation Id:
885214
ClinVar RCV Id:
RCV001116669
dbSNP Id:
rs756485979
ExAC:
16:81398979 T / C
gnomAD v2:
16-81398979-T-C
gnomAD v4:
16-81365374-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365374T>C , CM000678.2:g.81365374T>C | GRCh38 |
| NC_000016.9:g.81398979T>C , CM000678.1:g.81398979T>C | GRCh37 |
| NC_000016.8:g.79956480T>C | NCBI36 |
| NG_009007.1:g.55409T>C , LRG_242:g.55409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1106T>C | ENSP00000498114.1:n.*1106T>C | |
| ENST00000648994.2:c.1398T>C MANE Select | ENSP00000497351.1:p.Val466= | |
| ENST00000650388.1:c.932T>C | ENSP00000498081.1:n.932T>C | |
| ENST00000568107.2:c.1398T>C | ENSP00000476795.1:p.Val466= | |
| NM_022041.3:c.1398T>C , LRG_242t1:c.1398T>C | NP_071324.1:p.Val466= | |
| XM_017023734.1:c.759T>C | XP_016879223.1:p.Val253= | |
| NM_001377486.1:c.759T>C | NP_001364415.1:p.Val253= | |
| NM_022041.4:c.1398T>C MANE Select | NP_071324.1:p.Val466= |