Linked Data
ClinVar Variation Id:
849434
ClinVar RCV Id:
RCV001053394
dbSNP Id:
rs1890916653
gnomAD v4:
14-77298695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77298695G>A , CM000676.2:g.77298695G>A | GRCh38 |
| NC_000014.8:g.77765038G>A , CM000676.1:g.77765038G>A | GRCh37 |
| NC_000014.7:g.76834791G>A | NCBI36 |
| NG_008897.1:g.27188C>T , LRG_844:g.27188C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.541C>T | ENSP00000451967.2:p.Pro181Ser | |
| ENST00000557289.2:c.298C>T | ||
| ENST00000682247.1:c.1000C>T | ENSP00000507213.1:p.Pro334Ser | |
| ENST00000682382.1:c.572C>T | ||
| ENST00000682395.1:n.729C>T | ||
| ENST00000682459.1:n.664C>T | ||
| ENST00000682467.1:c.1000C>T | ENSP00000508062.1:p.Pro334Ser | |
| ENST00000682795.1:c.1000C>T | ENSP00000507574.1:p.Pro334Ser | |
| ENST00000682895.1:n.716C>T | ||
| ENST00000682955.1:n.288C>T | ||
| ENST00000683188.1:c.526C>T | ||
| ENST00000683300.1:c.110-2422C>T | ENSP00000507630.1:n.110-2422C>T | |
| ENST00000683328.1:c.109+5997C>T | ENSP00000508096.1:n.109+5997C>T | |
| ENST00000683380.1:n.664C>T | ||
| ENST00000683551.1:c.186C>T | ||
| ENST00000683828.1:c.709C>T | ||
| ENST00000684259.1:n.851C>T | ||
| ENST00000684549.1:n.551C>T | ||
| ENST00000684554.1:c.237C>T | ||
| ENST00000261534.9:c.1000C>T MANE Select | ENSP00000261534.4:p.Pro334Ser | |
| ENST00000261534.8:c.1000C>T | ENSP00000261534.4:p.Pro334Ser | |
| ENST00000452340.7:n.1023C>T | ||
| ENST00000554767.5:n.1786C>T | ||
| ENST00000557289.1:c.239C>T | ENSP00000451115.1:n.239C>T | |
| NM_013382.5:c.1000C>T , LRG_844t1:c.1000C>T | NP_037514.2:p.Pro334Ser | |
| XM_011536675.1:c.1000C>T | XP_011534977.1:p.Pro334Ser | |
| XM_011536676.1:c.667C>T | XP_011534978.1:p.Pro223Ser | |
| XM_011536677.1:c.548-2422C>T | XP_011534979.1:n.548-2422C>T | |
| XM_011536678.1:c.1000C>T | XP_011534980.1:p.Pro334Ser | |
| XM_011536679.1:c.94C>T | XP_011534981.1:p.Pro32Ser | |
| XM_011536680.1:c.1000C>T | XP_011534982.1:p.Pro334Ser | |
| XR_943416.1:n.1203C>T | ||
| XM_011536675.2:c.1000C>T | XP_011534977.1:p.Pro334Ser | |
| XM_011536676.2:c.667C>T | XP_011534978.1:p.Pro223Ser | |
| XM_011536677.3:c.548-2422C>T | XP_011534979.1:n.548-2422C>T | |
| XR_001750279.1:n.1200C>T | ||
| XR_001750282.1:n.1204C>T | ||
| XR_943416.3:n.1201C>T | ||
| NM_013382.6:c.1000C>T | NP_037514.2:p.Pro334Ser | |
| NM_013382.7:c.1000C>T MANE Select | NP_037514.2:p.Pro334Ser |