Linked Data
ClinVar Variation Id:
321197
ClinVar RCV Id:
RCV000377728
dbSNP Id:
rs753249472
ExAC:
16:88893256 A / G
gnomAD v2:
16-88893256-A-G
gnomAD v4:
16-88826848-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88826848A>G , CM000678.2:g.88826848A>G | GRCh38 |
| NC_000016.9:g.88893256A>G , CM000678.1:g.88893256A>G | GRCh37 |
| NC_000016.8:g.87420757A>G | NCBI36 |
| NG_008667.1:g.35119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1003-10T>C MANE Select | ENSP00000268695.5:n.1003-10T>C | |
| ENST00000268695.9:c.1003-10T>C | ENSP00000268695.5:n.1003-10T>C | |
| ENST00000562593.5:n.4412-10T>C | ||
| ENST00000564263.1:n.269T>C | ||
| ENST00000567525.5:c.684-10T>C | ENSP00000454484.1:n.684-10T>C | |
| ENST00000568613.5:c.1122-10T>C | ENSP00000457921.1:n.1122-10T>C | |
| NM_000512.4:c.1003-10T>C | NP_000503.1:n.1003-10T>C | |
| XM_005256301.2:c.1003-10T>C | XP_005256358.1:n.1003-10T>C | |
| XM_005256302.1:c.1021-10T>C | XP_005256359.1:n.1021-10T>C | |
| XM_011522982.1:c.1021-10T>C | XP_011521284.1:n.1021-10T>C | |
| XM_011522984.1:c.1021-10T>C | XP_011521286.1:n.1021-10T>C | |
| NM_001323543.1:c.448-10T>C | NP_001310472.1:n.448-10T>C | |
| NM_001323544.1:c.1021-10T>C | NP_001310473.1:n.1021-10T>C | |
| XM_005256301.3:c.1003-10T>C | XP_005256358.1:n.1003-10T>C | |
| XM_011522982.2:c.1021-10T>C | XP_011521284.1:n.1021-10T>C | |
| XM_017023111.2:c.1021-10T>C | XP_016878600.1:n.1021-10T>C | |
| XM_017023112.2:c.1021-10T>C | XP_016878601.1:n.1021-10T>C | |
| XM_017023113.1:c.448-10T>C | XP_016878602.1:n.448-10T>C | |
| NM_000512.5:c.1003-10T>C MANE Select | NP_000503.1:n.1003-10T>C | |
| NM_001323543.2:c.448-10T>C | NP_001310472.1:n.448-10T>C | |
| NM_001323544.2:c.1021-10T>C | NP_001310473.1:n.1021-10T>C |