Linked Data
dbSNP Id:
rs2292593
gnomAD v2:
17-63197920-T-C
gnomAD v3:
17-65201802-T-C
gnomAD v4:
17-65201802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65201802T>C , CM000679.2:g.65201802T>C | GRCh38 |
| NC_000017.10:g.63197920T>C , CM000679.1:g.63197920T>C | GRCh37 |
| NC_000017.9:g.60628382T>C | NCBI36 |
| NG_013021.1:g.69465T>C | |
| NG_013021.2:g.69465T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262406.10:c.977-191T>C MANE Select | ENSP00000262406.9:n.977-191T>C | |
| ENST00000635833.1:c.977-191T>C | ENSP00000490658.1:n.977-191T>C | |
| ENST00000262406.9:c.977-191T>C | ENSP00000262406.9:n.977-191T>C | |
| ENST00000443584.7:c.968-191T>C | ENSP00000405814.3:n.968-191T>C | |
| ENST00000449996.7:c.968-191T>C | ENSP00000396329.3:n.968-191T>C | |
| ENST00000577595.1:n.905-191T>C | ||
| ENST00000581175.5:n.985-191T>C | ||
| ENST00000584234.5:c.977-191T>C | ENSP00000463410.1:n.977-191T>C | |
| NM_001081955.2:c.968-191T>C | NP_001075424.1:n.968-191T>C | |
| NM_001165933.1:c.968-191T>C | NP_001159405.1:n.968-191T>C | |
| NM_003835.3:c.977-191T>C | NP_003826.2:n.977-191T>C | |
| XM_011525426.1:c.389-191T>C | XP_011523728.1:n.389-191T>C | |
| XM_011525426.3:c.389-191T>C | XP_011523728.1:n.389-191T>C | |
| NM_003835.4:c.977-191T>C MANE Select | NP_003826.2:n.977-191T>C | |
| NM_001081955.3:c.968-191T>C | NP_001075424.1:n.968-191T>C | |
| NM_001165933.2:c.968-191T>C | NP_001159405.1:n.968-191T>C |