Linked Data
dbSNP Id:
rs1567650295
gnomAD v2:
17-16845313-G-A
gnomAD v3:
17-16941999-G-A
gnomAD v4:
17-16941999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16941999G>A , CM000679.2:g.16941999G>A | GRCh38 |
| NC_000017.10:g.16845313G>A , CM000679.1:g.16845313G>A | GRCh37 |
| NC_000017.9:g.16786038G>A | NCBI36 |
| NG_007281.1:g.35090C>T , LRG_120:g.35090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.446-1488C>T MANE Select | ENSP00000261652.2:n.446-1488C>T | |
| ENST00000261652.6:c.446-1488C>T | ENSP00000261652.2:n.446-1488C>T | |
| ENST00000579315.5:c.445+6739C>T | ENSP00000464069.1:n.445+6739C>T | |
| ENST00000581616.2:n.449-522C>T | ||
| ENST00000582931.5:n.349+6739C>T | ||
| ENST00000583789.1:c.308-1488C>T | ENSP00000462952.1:n.308-1488C>T | |
| ENST00000584950.5:c.308-1488C>T | ENSP00000463582.1:n.308-1488C>T | |
| NM_012452.2:c.446-1488C>T , LRG_120t1:c.446-1488C>T | NP_036584.1:n.446-1488C>T | |
| NM_012452.3:c.446-1488C>T MANE Select | NP_036584.1:n.446-1488C>T |