Linked Data
ClinVar Variation Id:
166904
dbSNP Id:
rs146307965
ExAC:
14:77746777 A / G
gnomAD v2:
14-77746777-A-G
gnomAD v3:
14-77280434-A-G
gnomAD v4:
14-77280434-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77280434A>G , CM000676.2:g.77280434A>G | GRCh38 |
| NC_000014.8:g.77746777A>G , CM000676.1:g.77746777A>G | GRCh37 |
| NC_000014.7:g.76816530A>G | NCBI36 |
| NG_008897.1:g.45449T>C , LRG_844:g.45449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.322T>C | ||
| ENST00000556394.2:c.1224T>C | ENSP00000451967.2:p.Asn408= | |
| ENST00000682247.1:c.1683T>C | ENSP00000507213.1:p.Asn561= | |
| ENST00000682382.1:c.2331T>C | ||
| ENST00000682395.1:n.1861T>C | ||
| ENST00000682459.1:n.1386T>C | ||
| ENST00000682467.1:c.1683T>C | ENSP00000508062.1:p.Asn561= | |
| ENST00000682560.1:c.259T>C | ENSP00000507033.1:n.259T>C | |
| ENST00000682795.1:c.1683T>C | ENSP00000507574.1:p.Asn561= | |
| ENST00000682895.1:n.1399T>C | ||
| ENST00000682925.1:c.173T>C | ||
| ENST00000682955.1:n.971T>C | ||
| ENST00000682973.1:c.30T>C | ENSP00000508268.1:p.Asn10= | |
| ENST00000683095.1:c.30T>C | ENSP00000508040.1:p.Asn10= | |
| ENST00000683188.1:c.1658T>C | ||
| ENST00000683380.1:n.1347T>C | ||
| ENST00000683828.1:c.1392T>C | ||
| ENST00000684172.1:c.30T>C | ENSP00000508391.1:p.Asn10= | |
| ENST00000684259.1:n.2497T>C | ||
| ENST00000684538.1:n.109T>C | ||
| ENST00000684549.1:n.1234T>C | ||
| ENST00000261534.9:c.1683T>C MANE Select | ENSP00000261534.4:p.Asn561= | |
| ENST00000261534.8:c.1683T>C | ENSP00000261534.4:p.Asn561= | |
| ENST00000452340.7:n.1706T>C | ||
| ENST00000554564.1:n.597T>C | ||
| ENST00000554767.5:n.2469T>C | ||
| ENST00000555134.1:n.322T>C | ||
| ENST00000556171.1:c.86T>C | ||
| NM_013382.5:c.1683T>C , LRG_844t1:c.1683T>C | NP_037514.2:p.Asn561= | |
| XM_011536675.1:c.1683T>C | XP_011534977.1:p.Asn561= | |
| XM_011536676.1:c.1350T>C | XP_011534978.1:p.Asn450= | |
| XM_011536677.1:c.1224T>C | XP_011534979.1:p.Asn408= | |
| XM_011536678.1:c.1683T>C | XP_011534980.1:p.Asn561= | |
| XM_011536679.1:c.777T>C | XP_011534981.1:p.Asn259= | |
| XR_943416.1:n.1886T>C | ||
| XM_011536675.2:c.1683T>C | XP_011534977.1:p.Asn561= | |
| XM_011536676.2:c.1350T>C | XP_011534978.1:p.Asn450= | |
| XM_011536677.3:c.1224T>C | XP_011534979.1:p.Asn408= | |
| XR_001750279.1:n.1883T>C | ||
| XR_001750282.1:n.2336T>C | ||
| XR_943416.3:n.1884T>C | ||
| NM_013382.6:c.1683T>C | NP_037514.2:p.Asn561= | |
| NM_013382.7:c.1683T>C MANE Select | NP_037514.2:p.Asn561= |