Linked Data
dbSNP Id:
rs1221087504
gnomAD v2:
14-75472728-C-T
gnomAD v3:
14-75006025-C-T
gnomAD v4:
14-75006025-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75006025C>T , CM000676.2:g.75006025C>T | GRCh38 |
| NC_000014.8:g.75472728C>T , CM000676.1:g.75472728C>T | GRCh37 |
| NC_000014.7:g.74542481C>T | NCBI36 |
| NG_013333.1:g.8117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.693+64C>T MANE Select | ENSP00000266126.5:n.693+64C>T | |
| ENST00000266126.9:c.693+64C>T | ENSP00000266126.5:n.693+64C>T | |
| ENST00000553401.5:c.691+64C>T | ENSP00000451681.1:n.691+64C>T | |
| ENST00000554748.2:c.57+64C>T | ENSP00000452582.2:n.57+64C>T | |
| ENST00000556028.5:c.*41+64C>T | ENSP00000452311.1:n.*41+64C>T | |
| NM_014239.3:c.693+64C>T | NP_055054.1:n.693+64C>T | |
| NM_014239.4:c.693+64C>T MANE Select | NP_055054.1:n.693+64C>T |