Linked Data
dbSNP Id:
rs3917888
ExAC:
17:32583383 C / T
gnomAD v2:
17-32583383-C-T
gnomAD v3:
17-34256364-C-T
gnomAD v4:
17-34256364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256364C>T , CM000679.2:g.34256364C>T | GRCh38 |
| NC_000017.10:g.32583383C>T , CM000679.1:g.32583383C>T | GRCh37 |
| NC_000017.9:g.29607496C>T | NCBI36 |
| NG_012123.1:g.6088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*21C>T | ENSP00000462156.1:n.*21C>T | |
| ENST00000624362.2:n.1080C>T | ||
| ENST00000225831.4:c.194+25C>T MANE Select | ENSP00000225831.4:n.194+25C>T | |
| ENST00000580907.5:c.*21C>T | ENSP00000462156.1:n.*21C>T | |
| ENST00000582017.1:n.157C>T | ||
| NM_002982.3:c.194+25C>T | NP_002973.1:n.194+25C>T | |
| NM_002982.4:c.194+25C>T MANE Select | NP_002973.1:n.194+25C>T |