Linked Data
dbSNP Id:
rs138342123
ExAC:
17:4535299 G / A
gnomAD v2:
17-4535299-G-A
gnomAD v3:
17-4632004-G-A
gnomAD v4:
17-4632004-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4632004G>A , CM000679.2:g.4632004G>A | GRCh38 |
| NC_000017.10:g.4535299G>A , CM000679.1:g.4535299G>A | GRCh37 |
| NC_000017.9:g.4482048G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1694C>T MANE Select | ENSP00000293761.3:p.Pro565Leu | |
| ENST00000570836.6:c.1694C>T | ENSP00000458832.1:p.Pro565Leu | |
| ENST00000293761.7:c.1694C>T | ENSP00000293761.3:p.Pro565Leu | |
| ENST00000570836.5:c.1694C>T | ENSP00000458832.1:p.Pro565Leu | |
| ENST00000574640.1:c.1577C>T | ENSP00000460483.1:p.Pro526Leu | |
| NM_001140.3:c.1694C>T | NP_001131.3:p.Pro565Leu | |
| NM_001140.4:c.1694C>T | NP_001131.3:p.Pro565Leu | |
| NM_001140.5:c.1694C>T MANE Select | NP_001131.3:p.Pro565Leu |