Linked Data
dbSNP Id:
rs2019154
gnomAD v2:
17-78654344-G-A
gnomAD v3:
17-80680544-G-A
gnomAD v4:
17-80680544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80680544G>A , CM000679.2:g.80680544G>A | GRCh38 |
| NC_000017.10:g.78654344G>A , CM000679.1:g.78654344G>A | GRCh37 |
| NC_000017.9:g.76268939G>A | NCBI36 |
| NG_013034.1:g.140720G>A | |
| NG_013034.2:g.140720G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697423.1:c.403-27297G>A | ENSP00000513305.1:n.403-27297G>A | |
| ENST00000306801.8:c.349-27297G>A MANE Select | ENSP00000307272.3:n.349-27297G>A | |
| ENST00000649732.1:n.1105-27297G>A | ||
| ENST00000306801.7:c.349-27297G>A | ENSP00000307272.3:n.349-27297G>A | |
| ENST00000544334.6:c.349-27297G>A | ENSP00000442479.2:n.349-27297G>A | |
| ENST00000570891.5:c.349-27297G>A | ENSP00000460136.1:n.349-27297G>A | |
| ENST00000574767.5:c.266-27297G>A | ENSP00000459701.1:n.266-27297G>A | |
| ENST00000577161.5:n.1148-27297G>A | ||
| NM_001163034.1:c.349-27297G>A | NP_001156506.1:n.349-27297G>A | |
| NM_020761.2:c.349-27297G>A | NP_065812.1:n.349-27297G>A | |
| NM_020761.3:c.349-27297G>A MANE Select | NP_065812.1:n.349-27297G>A | |
| NM_001163034.2:c.349-27297G>A | NP_001156506.1:n.349-27297G>A |