Linked Data
ClinVar Variation Id:
195016
dbSNP Id:
rs145847992
ExAC:
2:38302487 C / A
gnomAD v2:
2-38302487-C-A
gnomAD v3:
2-38075344-C-A
gnomAD v4:
2-38075344-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075344C>A , CM000664.2:g.38075344C>A | GRCh38 |
| NC_000002.11:g.38302487C>A , CM000664.1:g.38302487C>A | GRCh37 |
| NC_000002.10:g.38155991C>A | NCBI36 |
| NG_008386.2:g.5758G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.45G>T | ENSP00000478839.2:p.Pro15= | |
| ENST00000610745.5:c.45G>T MANE Select | ENSP00000478561.1:p.Pro15= | |
| ENST00000490576.1:c.45G>T | ENSP00000478839.1:p.Pro15= | |
| ENST00000494864.1:c.-70-4034G>T | ENSP00000479876.1:n.-70-4034G>T | |
| ENST00000610745.4:c.45G>T | ENSP00000478561.1:p.Pro15= | |
| ENST00000613082.1:n.375+436G>T | ||
| ENST00000614273.1:c.45G>T | ENSP00000483678.1:p.Pro15= | |
| NM_000104.3:c.45G>T | NP_000095.2:p.Pro15= | |
| NM_000104.4:c.45G>T MANE Select | NP_000095.2:p.Pro15= |