Linked Data
ClinVar Variation Id:
191070
ClinVar RCV Id:
RCV000171250
dbSNP Id:
rs786205500
gnomAD v4:
17-8003574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003574T>C , CM000679.2:g.8003574T>C | GRCh38 |
| NC_000017.10:g.7906892T>C , CM000679.1:g.7906892T>C | GRCh37 |
| NC_000017.9:g.7847617T>C | NCBI36 |
| NG_009092.1:g.5905T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254854.5:c.527T>C MANE Select | ENSP00000254854.4:p.Leu176Pro | |
| ENST00000254854.4:c.527T>C | ENSP00000254854.4:p.Leu176Pro | |
| NM_000180.3:c.527T>C | NP_000171.1:p.Leu176Pro | |
| XM_011523816.1:c.527T>C | XP_011522118.1:p.Leu176Pro | |
| NM_000180.4:c.527T>C MANE Select | NP_000171.1:p.Leu176Pro |