Linked Data
ClinVar Variation Id:
2791473
ClinVar RCV Id:
RCV003672505
dbSNP Id:
rs1448449937
gnomAD v3:
14-75003546-T-A
gnomAD v4:
14-75003546-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003546T>A , CM000676.2:g.75003546T>A | GRCh38 |
| NC_000014.8:g.75470249T>A , CM000676.1:g.75470249T>A | GRCh37 |
| NC_000014.7:g.74540002T>A | NCBI36 |
| NG_013333.1:g.5638T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.285-5T>A MANE Select | ENSP00000266126.5:n.285-5T>A | |
| ENST00000266126.9:c.285-5T>A | ENSP00000266126.5:n.285-5T>A | |
| ENST00000553401.5:c.258-5T>A | ENSP00000451681.1:n.258-5T>A | |
| ENST00000553539.1:n.575T>A | ||
| ENST00000555522.1:n.343-5T>A | ||
| ENST00000556028.5:c.285-5T>A | ENSP00000452311.1:n.285-5T>A | |
| NM_014239.3:c.285-5T>A | NP_055054.1:n.285-5T>A | |
| NM_014239.4:c.285-5T>A MANE Select | NP_055054.1:n.285-5T>A |