Linked Data
dbSNP Id:
rs773503448
ExAC:
17:39768426 T / C
gnomAD v2:
17-39768426-T-C
gnomAD v4:
17-41612174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612174T>C , CM000679.2:g.41612174T>C | GRCh38 |
| NC_000017.10:g.39768426T>C , CM000679.1:g.39768426T>C | GRCh37 |
| NC_000017.9:g.37021952T>C | NCBI36 |
| NG_008301.1:g.5654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.515A>G MANE Select | ENSP00000301653.3:p.Glu172Gly | |
| ENST00000301653.8:c.515A>G | ENSP00000301653.3:p.Glu172Gly | |
| ENST00000588319.1:n.592A>G | ||
| ENST00000593067.1:c.-200A>G | ENSP00000467124.1:n.-200A>G | |
| NM_005557.3:c.515A>G | NP_005548.2:p.Glu172Gly | |
| NM_005557.4:c.515A>G MANE Select | NP_005548.2:p.Glu172Gly |