Linked Data
gnomAD v4:
17-34256347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256347C>T , CM000679.2:g.34256347C>T | GRCh38 |
| NC_000017.10:g.32583366C>T , CM000679.1:g.32583366C>T | GRCh37 |
| NC_000017.9:g.29607479C>T | NCBI36 |
| NG_012123.1:g.6071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*4C>T | ENSP00000462156.1:n.*4C>T | |
| ENST00000624362.2:n.1063C>T | ||
| ENST00000225831.4:c.194+8C>T MANE Select | ENSP00000225831.4:n.194+8C>T | |
| ENST00000580907.5:c.*4C>T | ENSP00000462156.1:n.*4C>T | |
| ENST00000582017.1:n.140C>T | ||
| NM_002982.3:c.194+8C>T | NP_002973.1:n.194+8C>T | |
| NM_002982.4:c.194+8C>T MANE Select | NP_002973.1:n.194+8C>T |