Linked Data
dbSNP Id:
rs879082513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7654527C>T , CM000679.2:g.7654527C>T | GRCh38 |
| NC_000017.10:g.7557845C>T , CM000679.1:g.7557845C>T | GRCh37 |
| NC_000017.9:g.7498570C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250111.9:c.553-101C>T MANE Select | ENSP00000250111.4:n.553-101C>T | |
| ENST00000250111.8:c.553-101C>T | ENSP00000250111.4:n.553-101C>T | |
| ENST00000577026.5:c.307-101C>T | ENSP00000459145.1:n.307-101C>T | |
| ENST00000577113.1:c.150-101C>T | ||
| NM_001303263.1:c.307-101C>T | NP_001290192.1:n.307-101C>T | |
| NM_001678.4:c.553-101C>T | NP_001669.3:n.553-101C>T | |
| NM_001678.5:c.553-101C>T MANE Select | NP_001669.3:n.553-101C>T | |
| NM_001303263.2:c.307-101C>T | NP_001290192.1:n.307-101C>T |