Linked Data
dbSNP Id:
rs927993982
gnomAD v2:
6-31918605-A-T
gnomAD v3:
6-31950828-A-T
gnomAD v4:
6-31950828-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950828A>T , CM000668.2:g.31950828A>T | GRCh38 |
| NC_000006.11:g.31918605A>T , CM000668.1:g.31918605A>T | GRCh37 |
| NC_000006.10:g.32026584A>T | NCBI36 |
| NG_008191.1:g.9885A>T , LRG_136:g.9885A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2226A>T | ||
| ENST00000483004.2:c.1563-40A>T | ENSP00000419887.2:n.1563-40A>T | |
| ENST00000698628.1:c.1625-316A>T | ENSP00000513848.1:n.1625-316A>T | |
| ENST00000698629.1:n.2011A>T | ||
| ENST00000698630.1:n.2495-40A>T | ||
| ENST00000698631.1:n.2496-40A>T | ||
| ENST00000698632.1:n.3345A>T | ||
| ENST00000698633.1:n.3235A>T | ||
| ENST00000425368.7:c.1779-40A>T MANE Select | ENSP00000416561.2:n.1779-40A>T | |
| ENST00000425368.6:c.1779-40A>T | ENSP00000416561.2:n.1779-40A>T | |
| ENST00000456570.5:c.3285-40A>T | ENSP00000410815.1:n.3285-40A>T | |
| ENST00000467360.1:n.905-40A>T | ||
| ENST00000477310.1:c.2832-40A>T | ENSP00000418996.1:n.2832-40A>T | |
| ENST00000483004.1:c.401-40A>T | ||
| NM_001710.5:c.1779-40A>T , LRG_136t1:c.1779-40A>T | NP_001701.2:n.1779-40A>T | |
| NM_001710.6:c.1779-40A>T MANE Select | NP_001701.2:n.1779-40A>T |