Linked Data
ClinVar Variation Id:
194247
dbSNP Id:
rs150491326
ExAC:
14:77751904 T / C
gnomAD v2:
14-77751904-T-C
gnomAD v3:
14-77285561-T-C
gnomAD v4:
14-77285561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77285561T>C , CM000676.2:g.77285561T>C | GRCh38 |
| NC_000014.8:g.77751904T>C , CM000676.1:g.77751904T>C | GRCh37 |
| NC_000014.7:g.76821657T>C | NCBI36 |
| NG_008897.1:g.40322A>G , LRG_844:g.40322A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.43A>G | ||
| ENST00000556394.2:c.945A>G | ENSP00000451967.2:p.Lys315= | |
| ENST00000682247.1:c.1404A>G | ENSP00000507213.1:p.Lys468= | |
| ENST00000682382.1:c.976A>G | ||
| ENST00000682395.1:n.1582A>G | ||
| ENST00000682459.1:n.1107A>G | ||
| ENST00000682467.1:c.1404A>G | ENSP00000508062.1:p.Lys468= | |
| ENST00000682560.1:c.72A>G | ENSP00000507033.1:p.Lys24= | |
| ENST00000682795.1:c.1404A>G | ENSP00000507574.1:p.Lys468= | |
| ENST00000682895.1:n.1120A>G | ||
| ENST00000682955.1:n.692A>G | ||
| ENST00000683188.1:c.1379A>G | ||
| ENST00000683380.1:n.1068A>G | ||
| ENST00000683828.1:c.1113A>G | ||
| ENST00000684259.1:n.1255A>G | ||
| ENST00000684444.1:c.155A>G | ||
| ENST00000684549.1:n.955A>G | ||
| ENST00000261534.9:c.1404A>G MANE Select | ENSP00000261534.4:p.Lys468= | |
| ENST00000261534.8:c.1404A>G | ENSP00000261534.4:p.Lys468= | |
| ENST00000452340.7:n.1427A>G | ||
| ENST00000553880.5:n.275A>G | ||
| ENST00000554767.5:n.2190A>G | ||
| ENST00000554884.5:n.396A>G | ||
| ENST00000555134.1:n.43A>G | ||
| ENST00000557675.5:n.494A>G | ||
| NM_013382.5:c.1404A>G , LRG_844t1:c.1404A>G | NP_037514.2:p.Lys468= | |
| XM_011536675.1:c.1404A>G | XP_011534977.1:p.Lys468= | |
| XM_011536676.1:c.1071A>G | XP_011534978.1:p.Lys357= | |
| XM_011536677.1:c.945A>G | XP_011534979.1:p.Lys315= | |
| XM_011536678.1:c.1404A>G | XP_011534980.1:p.Lys468= | |
| XM_011536679.1:c.498A>G | XP_011534981.1:p.Lys166= | |
| XR_943416.1:n.1607A>G | ||
| XM_011536675.2:c.1404A>G | XP_011534977.1:p.Lys468= | |
| XM_011536676.2:c.1071A>G | XP_011534978.1:p.Lys357= | |
| XM_011536677.3:c.945A>G | XP_011534979.1:p.Lys315= | |
| XR_001750279.1:n.1604A>G | ||
| XR_001750282.1:n.2057A>G | ||
| XR_943416.3:n.1605A>G | ||
| NM_013382.6:c.1404A>G | NP_037514.2:p.Lys468= | |
| NM_013382.7:c.1404A>G MANE Select | NP_037514.2:p.Lys468= |