Linked Data
dbSNP Id:
rs1423693699
gnomAD v2:
17-32583339-T-G
gnomAD v3:
17-34256320-T-G
gnomAD v4:
17-34256320-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256320T>G , CM000679.2:g.34256320T>G | GRCh38 |
| NC_000017.10:g.32583339T>G , CM000679.1:g.32583339T>G | GRCh37 |
| NC_000017.9:g.29607452T>G | NCBI36 |
| NG_012123.1:g.6044T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.175T>G | ENSP00000462156.1:p.Cys59Gly | |
| ENST00000624362.2:n.1036T>G | ||
| ENST00000225831.4:c.175T>G MANE Select | ENSP00000225831.4:p.Cys59Gly | |
| ENST00000580907.5:c.175T>G | ENSP00000462156.1:p.Cys59Gly | |
| ENST00000582017.1:n.113T>G | ||
| NM_002982.3:c.175T>G | NP_002973.1:p.Cys59Gly | |
| NM_002982.4:c.175T>G MANE Select | NP_002973.1:p.Cys59Gly |