Linked Data
ClinVar Variation Id:
325961
ClinVar RCV Id:
RCV000281457
dbSNP Id:
rs199731680
ExAC:
17:8007508 T / C
gnomAD v2:
17-8007508-T-C
gnomAD v3:
17-8104190-T-C
gnomAD v4:
17-8104190-T-C
MyVariant Identifiers:
chr17:g.8007508T>C (hg19)
chr17:g.8007508_8007510delinsCGG (hg19)
chr17:g.8104190T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8104190T>C , CM000679.2:g.8104190T>C | GRCh38 |
| NC_000017.10:g.8007508T>C , CM000679.1:g.8007508T>C | GRCh37 |
| NC_000017.9:g.7948233T>C | NCBI36 |
| NG_015807.1:g.19727A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.1710A>G | ENSP00000314879.4:p.Pro570= | |
| ENST00000380149.6:c.1710A>G | ENSP00000369494.2:p.Pro570= | |
| ENST00000448843.7:c.1710A>G MANE Select | ENSP00000400581.2:p.Pro570= | |
| ENST00000318227.3:c.2106A>G | ENSP00000314879.3:p.Pro702= | |
| ENST00000380149.5:c.2178A>G | ENSP00000369494.1:p.Pro726= | |
| ENST00000448843.6:c.1710A>G | ENSP00000400581.2:p.Pro570= | |
| NM_001165960.1:c.2106A>G | NP_001159432.1:p.Pro702= | |
| NM_021628.2:c.1710A>G | NP_067641.2:p.Pro570= | |
| XM_017024921.2:c.1710A>G | XP_016880410.1:p.Pro570= | |
| XM_017024922.2:c.1588A>G | XP_016880411.1:p.Arg530Gly | |
| XR_001752579.2:n.1861A>G | ||
| XR_001752580.2:n.1772A>G | ||
| NM_001369446.1:c.1707A>G | NP_001356375.1:p.Pro569= | |
| NM_021628.3:c.1710A>G MANE Select | NP_067641.2:p.Pro570= |