Linked Data
ClinVar Variation Id:
259673
dbSNP Id:
rs142631461
ExAC:
17:27576202 C / T
gnomAD v2:
17-27576202-C-T
gnomAD v3:
17-29249184-C-T
gnomAD v4:
17-29249184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29249184C>T , CM000679.2:g.29249184C>T | GRCh38 |
| NC_000017.10:g.27576202C>T , CM000679.1:g.27576202C>T | GRCh37 |
| NC_000017.9:g.24600328C>T | NCBI36 |
| NG_008037.1:g.7328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225387.8:c.74C>T MANE Select | ENSP00000225387.3:p.Pro25Leu | |
| ENST00000225387.7:c.74C>T | ENSP00000225387.3:p.Pro25Leu | |
| ENST00000484605.1:c.64C>T | ||
| NM_005208.4:c.74C>T | NP_005199.2:p.Pro25Leu | |
| XM_017024198.1:c.377C>T | XP_016879687.1:p.Pro126Leu | |
| NM_005208.5:c.74C>T MANE Select | NP_005199.2:p.Pro25Leu |