Linked Data
dbSNP Id:
rs1308478749
gnomAD v2:
17-8024128-A-T
gnomAD v3:
17-8120810-A-T
gnomAD v4:
17-8120810-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8120810A>T , CM000679.2:g.8120810A>T | GRCh38 |
| NC_000017.10:g.8024128A>T , CM000679.1:g.8024128A>T | GRCh37 |
| NC_000017.9:g.7964853A>T | NCBI36 |
| NG_015807.1:g.3107T>A | |
| NG_015816.1:g.8283T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.*761T>A MANE Select | ENSP00000446205.2:n.*761T>A | |
| ENST00000541682.6:c.1454T>A | ENSP00000446205.2:n.1454T>A | |
| NM_001165967.1:c.*761T>A | NP_001159439.1:n.*761T>A | |
| NM_032580.3:c.*761T>A | NP_115969.2:n.*761T>A | |
| XM_011524038.1:c.*761T>A | XP_011522340.1:n.*761T>A | |
| XR_934203.1:n.69+996A>T | ||
| XM_017025232.1:c.*761T>A | XP_016880721.1:n.*761T>A | |
| XM_024451007.1:c.*761T>A | XP_024306775.1:n.*761T>A | |
| NM_001165967.2:c.*761T>A MANE Select | NP_001159439.1:n.*761T>A | |
| NM_032580.4:c.*761T>A | NP_115969.2:n.*761T>A |