Linked Data
dbSNP Id:
rs769637866
ExAC:
6:132211653 A / T
gnomAD v2:
6-132211653-A-T
gnomAD v4:
6-131890513-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890513A>T , CM000668.2:g.131890513A>T | GRCh38 |
| NC_000006.11:g.132211653A>T , CM000668.1:g.132211653A>T | GRCh37 |
| NC_000006.10:g.132253346A>T | NCBI36 |
| NG_008206.1:g.87498A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1211A>T | ||
| ENST00000647893.1:c.*2A>T MANE Select | ENSP00000498074.1:n.*2A>T | |
| ENST00000360971.6:c.*2A>T | ENSP00000354238.2:n.*2A>T | |
| ENST00000513998.5:c.*1617A>T | ENSP00000422424.1:n.*1617A>T | |
| NM_006208.2:c.*2A>T | NP_006199.2:n.*2A>T | |
| XM_011535896.1:c.*2A>T | XP_011534198.1:n.*2A>T | |
| NM_006208.3:c.*2A>T MANE Select | NP_006199.2:n.*2A>T |