Linked Data
dbSNP Id:
rs1281688708
gnomAD v2:
15-74222027-C-A
gnomAD v3:
15-73929686-C-A
gnomAD v4:
15-73929686-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73929686C>A , CM000677.2:g.73929686C>A | GRCh38 |
| NC_000015.9:g.74222027C>A , CM000677.1:g.74222027C>A | GRCh37 |
| NC_000015.8:g.72009080C>A | NCBI36 |
| NG_011466.1:g.8239C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261921.8:c.1102+1801C>A MANE Select | ENSP00000261921.7:n.1102+1801C>A | |
| ENST00000261921.7:c.1102+1801C>A | ENSP00000261921.7:n.1102+1801C>A | |
| ENST00000566011.5:c.1102+1801C>A | ENSP00000457827.1:n.1102+1801C>A | |
| NM_005576.2:c.1102+1801C>A | NP_005567.2:n.1102+1801C>A | |
| XM_011521555.1:c.1102+1801C>A | XP_011519857.1:n.1102+1801C>A | |
| XR_931824.1:n.1435+1801C>A | ||
| NM_005576.3:c.1102+1801C>A | NP_005567.2:n.1102+1801C>A | |
| XM_011521555.2:c.1102+1801C>A | XP_011519857.1:n.1102+1801C>A | |
| XR_931824.2:n.1424+1801C>A | ||
| NM_005576.4:c.1102+1801C>A MANE Select | NP_005567.2:n.1102+1801C>A |