Linked Data
ClinVar Variation Id:
3178096
ClinVar RCV Id:
RCV004472485
dbSNP Id:
rs770876061
ExAC:
15:102186981 G / C
gnomAD v2:
15-102186981-G-C
gnomAD v3:
15-101646778-G-C
gnomAD v4:
15-101646778-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101646778G>C , CM000677.2:g.101646778G>C | GRCh38 |
| NC_000015.9:g.102186981G>C , CM000677.1:g.102186981G>C | GRCh37 |
| NC_000015.8:g.100004504G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333202.8:c.449C>G MANE Select | ENSP00000330433.3:p.Pro150Arg | |
| ENST00000333202.7:c.449C>G | ENSP00000330433.3:p.Pro150Arg | |
| ENST00000347970.7:c.371C>G | ENSP00000327584.3:p.Pro124Arg | |
| ENST00000428002.6:c.371C>G | ENSP00000402179.2:p.Pro124Arg | |
| ENST00000558129.5:c.280C>G | ||
| ENST00000558677.5:c.750C>G | ||
| ENST00000559024.5:n.470C>G | ||
| ENST00000559107.5:c.449C>G | ENSP00000454131.1:p.Pro150Arg | |
| ENST00000560013.5:c.*817C>G | ENSP00000453503.1:n.*817C>G | |
| ENST00000560910.5:n.391C>G | ||
| ENST00000561373.1:c.254C>G | ENSP00000452823.1:p.Pro85Arg | |
| NM_001307960.1:c.371C>G | NP_001294889.1:p.Pro124Arg | |
| NM_001308026.1:c.449C>G | NP_001294955.1:p.Pro150Arg | |
| NM_025141.3:c.371C>G | NP_079417.2:p.Pro124Arg | |
| NM_078474.2:c.449C>G | NP_510883.2:p.Pro150Arg | |
| NM_078474.3:c.449C>G MANE Select | NP_510883.2:p.Pro150Arg | |
| NM_001307960.2:c.371C>G | NP_001294889.1:p.Pro124Arg | |
| NM_001308026.2:c.449C>G | NP_001294955.1:p.Pro150Arg | |
| NM_025141.4:c.371C>G | NP_079417.2:p.Pro124Arg |