Linked Data
dbSNP Id:
rs16965666
gnomAD v2:
17-38303547-T-G
gnomAD v3:
17-40147294-T-G
gnomAD v4:
17-40147294-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40147294T>G , CM000679.2:g.40147294T>G | GRCh38 |
| NC_000017.10:g.38303547T>G , CM000679.1:g.38303547T>G | GRCh37 |
| NC_000017.9:g.35557073T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264645.12:c.297+5687T>G MANE Select | ENSP00000264645.6:n.297+5687T>G | |
| ENST00000264645.11:c.297+5687T>G | ENSP00000264645.6:n.297+5687T>G | |
| ENST00000418132.7:n.528+5687T>G | ||
| ENST00000581849.1:n.309+5687T>G | ||
| ENST00000584997.1:c.87+5687T>G | ENSP00000467654.1:n.87+5687T>G | |
| NM_007359.4:c.297+5687T>G | NP_031385.2:n.297+5687T>G | |
| XM_005257163.1:c.297+5687T>G | XP_005257220.1:n.297+5687T>G | |
| XR_934422.1:n.370+5687T>G | ||
| XM_005257163.2:c.297+5687T>G | XP_005257220.1:n.297+5687T>G | |
| XR_001752451.2:n.340+5687T>G | ||
| XR_002957984.1:n.340+5687T>G | ||
| XR_002957985.1:n.340+5687T>G | ||
| XR_934422.3:n.340+5687T>G | ||
| NM_007359.5:c.297+5687T>G MANE Select | NP_031385.2:n.297+5687T>G |