Linked Data
ClinVar Variation Id:
512926
ClinVar RCV Id:
RCV001698009
dbSNP Id:
rs868684471
gnomAD v2:
17-15903309-G-C
gnomAD v3:
17-15999995-G-C
gnomAD v4:
17-15999995-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999995G>C , CM000679.2:g.15999995G>C | GRCh38 |
| NC_000017.10:g.15903309G>C , CM000679.1:g.15903309G>C | GRCh37 |
| NC_000017.9:g.15844034G>C | NCBI36 |
| NG_029806.1:g.5616G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.147G>C MANE Select | ENSP00000261647.5:p.Pro49= | |
| ENST00000261647.9:c.147G>C | ENSP00000261647.5:p.Pro49= | |
| ENST00000466729.5:c.212G>C | ||
| ENST00000470399.1:c.162G>C | ENSP00000465082.1:p.Pro54= | |
| ENST00000475723.5:c.194G>C | ||
| ENST00000497842.6:n.172G>C | ||
| ENST00000583704.1:n.172G>C | ||
| NM_001271420.1:c.-312G>C | NP_001258349.1:n.-312G>C | |
| NM_017775.3:c.147G>C | NP_060245.3:p.Pro49= | |
| XM_011523950.1:c.147G>C | XP_011522252.1:p.Pro49= | |
| XM_017024801.2:c.147G>C | XP_016880290.2:p.Pro49= | |
| XM_017024802.2:c.147G>C | XP_016880291.2:p.Pro49= | |
| XM_024450814.1:c.147G>C | XP_024306582.1:p.Pro49= | |
| NM_017775.4:c.147G>C MANE Select | NP_060245.3:p.Pro49= | |
| NM_001271420.2:c.-312G>C | NP_001258349.1:n.-312G>C |