Linked Data
ClinVar Variation Id:
194648
dbSNP Id:
rs151051452
ExAC:
14:77746759 G / C
gnomAD v2:
14-77746759-G-C
gnomAD v3:
14-77280416-G-C
gnomAD v4:
14-77280416-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77280416G>C , CM000676.2:g.77280416G>C | GRCh38 |
| NC_000014.8:g.77746759G>C , CM000676.1:g.77746759G>C | GRCh37 |
| NC_000014.7:g.76816512G>C | NCBI36 |
| NG_008897.1:g.45467C>G , LRG_844:g.45467C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.340C>G | ||
| ENST00000556394.2:c.1242C>G | ENSP00000451967.2:p.Pro414= | |
| ENST00000682247.1:c.1701C>G | ENSP00000507213.1:p.Pro567= | |
| ENST00000682382.1:c.2349C>G | ||
| ENST00000682395.1:n.1879C>G | ||
| ENST00000682459.1:n.1404C>G | ||
| ENST00000682467.1:c.1701C>G | ENSP00000508062.1:p.Pro567= | |
| ENST00000682560.1:c.277C>G | ENSP00000507033.1:n.277C>G | |
| ENST00000682795.1:c.1701C>G | ENSP00000507574.1:p.Pro567= | |
| ENST00000682895.1:n.1417C>G | ||
| ENST00000682925.1:c.191C>G | ||
| ENST00000682955.1:n.989C>G | ||
| ENST00000682973.1:c.48C>G | ENSP00000508268.1:p.Pro16= | |
| ENST00000683095.1:c.48C>G | ENSP00000508040.1:p.Pro16= | |
| ENST00000683188.1:c.1676C>G | ||
| ENST00000683380.1:n.1365C>G | ||
| ENST00000683828.1:c.1410C>G | ||
| ENST00000684172.1:c.48C>G | ENSP00000508391.1:p.Pro16= | |
| ENST00000684259.1:n.2515C>G | ||
| ENST00000684538.1:n.127C>G | ||
| ENST00000684549.1:n.1252C>G | ||
| ENST00000261534.9:c.1701C>G MANE Select | ENSP00000261534.4:p.Pro567= | |
| ENST00000261534.8:c.1701C>G | ENSP00000261534.4:p.Pro567= | |
| ENST00000452340.7:n.1724C>G | ||
| ENST00000554564.1:n.615C>G | ||
| ENST00000554767.5:n.2487C>G | ||
| ENST00000555134.1:n.340C>G | ||
| ENST00000556171.1:c.104C>G | ||
| NM_013382.5:c.1701C>G , LRG_844t1:c.1701C>G | NP_037514.2:p.Pro567= | |
| XM_011536675.1:c.1701C>G | XP_011534977.1:p.Pro567= | |
| XM_011536676.1:c.1368C>G | XP_011534978.1:p.Pro456= | |
| XM_011536677.1:c.1242C>G | XP_011534979.1:p.Pro414= | |
| XM_011536678.1:c.1701C>G | XP_011534980.1:p.Pro567= | |
| XM_011536679.1:c.795C>G | XP_011534981.1:p.Pro265= | |
| XR_943416.1:n.1904C>G | ||
| XM_011536675.2:c.1701C>G | XP_011534977.1:p.Pro567= | |
| XM_011536676.2:c.1368C>G | XP_011534978.1:p.Pro456= | |
| XM_011536677.3:c.1242C>G | XP_011534979.1:p.Pro414= | |
| XR_001750279.1:n.1901C>G | ||
| XR_001750282.1:n.2354C>G | ||
| XR_943416.3:n.1902C>G | ||
| NM_013382.6:c.1701C>G | NP_037514.2:p.Pro567= | |
| NM_013382.7:c.1701C>G MANE Select | NP_037514.2:p.Pro567= |