Linked Data
dbSNP Id:
rs10852939
gnomAD v2:
17-38308244-C-T
gnomAD v3:
17-40151991-C-T
gnomAD v4:
17-40151991-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40151991C>T , CM000679.2:g.40151991C>T | GRCh38 |
| NC_000017.10:g.38308244C>T , CM000679.1:g.38308244C>T | GRCh37 |
| NC_000017.9:g.35561770C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264645.12:c.298-9762C>T MANE Select | ENSP00000264645.6:n.298-9762C>T | |
| ENST00000264645.11:c.298-9762C>T | ENSP00000264645.6:n.298-9762C>T | |
| ENST00000418132.7:n.529-9762C>T | ||
| ENST00000581849.1:n.310-9762C>T | ||
| ENST00000584997.1:c.88-9762C>T | ENSP00000467654.1:n.88-9762C>T | |
| NM_007359.4:c.298-9762C>T | NP_031385.2:n.298-9762C>T | |
| XM_005257163.1:c.298-9762C>T | XP_005257220.1:n.298-9762C>T | |
| XR_934422.1:n.371-9762C>T | ||
| XM_005257163.2:c.298-9762C>T | XP_005257220.1:n.298-9762C>T | |
| XR_001752451.2:n.341-9762C>T | ||
| XR_002957984.1:n.341-9762C>T | ||
| XR_002957985.1:n.341-9762C>T | ||
| XR_934422.3:n.341-9762C>T | ||
| NM_007359.5:c.298-9762C>T MANE Select | NP_031385.2:n.298-9762C>T |