Linked Data
dbSNP Id:
rs554674109
gnomAD v2:
17-16852389-A-T
gnomAD v3:
17-16949075-A-T
gnomAD v4:
17-16949075-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16949075A>T , CM000679.2:g.16949075A>T | GRCh38 |
| NC_000017.10:g.16852389A>T , CM000679.1:g.16852389A>T | GRCh37 |
| NC_000017.9:g.16793114A>T | NCBI36 |
| NG_007281.1:g.28014T>A , LRG_120:g.28014T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.200-92T>A MANE Select | ENSP00000261652.2:n.200-92T>A | |
| ENST00000261652.6:c.200-92T>A | ENSP00000261652.2:n.200-92T>A | |
| ENST00000579315.5:c.200-92T>A | ENSP00000464069.1:n.200-92T>A | |
| ENST00000581616.2:n.203-92T>A | ||
| ENST00000582931.5:n.104-92T>A | ||
| ENST00000583789.1:c.62-92T>A | ENSP00000462952.1:n.62-92T>A | |
| ENST00000584950.5:c.62-92T>A | ENSP00000463582.1:n.62-92T>A | |
| NM_012452.2:c.200-92T>A , LRG_120t1:c.200-92T>A | NP_036584.1:n.200-92T>A | |
| NM_012452.3:c.200-92T>A MANE Select | NP_036584.1:n.200-92T>A |