Linked Data
dbSNP Id:
rs1078967
gnomAD v2:
15-74222987-C-T
gnomAD v3:
15-73930646-C-T
gnomAD v4:
15-73930646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73930646C>T , CM000677.2:g.73930646C>T | GRCh38 |
| NC_000015.9:g.74222987C>T , CM000677.1:g.74222987C>T | GRCh37 |
| NC_000015.8:g.72010040C>T | NCBI36 |
| NG_011466.1:g.9199C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261921.8:c.1102+2761C>T MANE Select | ENSP00000261921.7:n.1102+2761C>T | |
| ENST00000261921.7:c.1102+2761C>T | ENSP00000261921.7:n.1102+2761C>T | |
| ENST00000566011.5:c.1102+2761C>T | ENSP00000457827.1:n.1102+2761C>T | |
| NM_005576.2:c.1102+2761C>T | NP_005567.2:n.1102+2761C>T | |
| XM_011521555.1:c.1102+2761C>T | XP_011519857.1:n.1102+2761C>T | |
| XR_931824.1:n.1435+2761C>T | ||
| NM_005576.3:c.1102+2761C>T | NP_005567.2:n.1102+2761C>T | |
| XM_011521555.2:c.1102+2761C>T | XP_011519857.1:n.1102+2761C>T | |
| XR_931824.2:n.1424+2761C>T | ||
| NM_005576.4:c.1102+2761C>T MANE Select | NP_005567.2:n.1102+2761C>T |