Linked Data
dbSNP Id:
rs1023146429
gnomAD v4:
8-31147193-A-T
MyVariant Identifiers:
chr8:g.31147193A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31147193A>T , CM000670.2:g.31147193A>T | GRCh38 |
| NC_000008.10:g.31004709A>T , CM000670.1:g.31004709A>T | GRCh37 |
| NC_000008.9:g.31124251A>T | NCBI36 |
| NG_008870.1:g.118932A>T , LRG_524:g.118932A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3459+65A>T MANE Select | ENSP00000298139.5:n.3459+65A>T | |
| ENST00000650667.1:c.*3073+65A>T | ENSP00000498593.1:n.*3073+65A>T | |
| ENST00000298139.5:c.3459+65A>T | ENSP00000298139.5:n.3459+65A>T | |
| ENST00000521620.5:n.2092+65A>T | ||
| NM_000553.4:c.3459+65A>T , LRG_524t1:c.3459+65A>T | NP_000544.2:n.3459+65A>T | |
| XM_011544639.1:c.3378+65A>T | XP_011542941.1:n.3378+65A>T | |
| XM_011544640.1:c.1860+65A>T | XP_011542942.1:n.1860+65A>T | |
| XR_949470.1:n.3732+65A>T | ||
| XR_949471.1:n.3732+65A>T | ||
| XR_949472.1:n.3732+65A>T | ||
| XR_949643.1:n.614+1315T>A | ||
| NM_000553.5:c.3459+65A>T | NP_000544.2:n.3459+65A>T | |
| XM_011544639.3:c.3378+65A>T | XP_011542941.1:n.3378+65A>T | |
| XM_024447265.1:c.3249+65A>T | XP_024303033.1:n.3249+65A>T | |
| XR_949470.3:n.3760+65A>T | ||
| XR_949471.3:n.3760+65A>T | ||
| XR_949472.3:n.3760+65A>T | ||
| NM_000553.6:c.3459+65A>T MANE Select | NP_000544.2:n.3459+65A>T |