Linked Data
gnomAD v4:
17-34256285-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256285G>T , CM000679.2:g.34256285G>T | GRCh38 |
| NC_000017.10:g.32583304G>T , CM000679.1:g.32583304G>T | GRCh37 |
| NC_000017.9:g.29607417G>T | NCBI36 |
| NG_012123.1:g.6009G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.140G>T | ENSP00000462156.1:p.Arg47Met | |
| ENST00000624362.2:n.1001G>T | ||
| ENST00000225831.4:c.140G>T MANE Select | ENSP00000225831.4:p.Arg47Met | |
| ENST00000580907.5:c.140G>T | ENSP00000462156.1:p.Arg47Met | |
| ENST00000582017.1:n.78G>T | ||
| NM_002982.3:c.140G>T | NP_002973.1:p.Arg47Met | |
| NM_002982.4:c.140G>T MANE Select | NP_002973.1:p.Arg47Met |