Linked Data
ClinVar Variation Id:
289786
dbSNP Id:
rs765103940
ExAC:
14:77765032 G / A
gnomAD v2:
14-77765032-G-A
gnomAD v3:
14-77298689-G-A
gnomAD v4:
14-77298689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77298689G>A , CM000676.2:g.77298689G>A | GRCh38 |
| NC_000014.8:g.77765032G>A , CM000676.1:g.77765032G>A | GRCh37 |
| NC_000014.7:g.76834785G>A | NCBI36 |
| NG_008897.1:g.27194C>T , LRG_844:g.27194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.547C>T | ENSP00000451967.2:p.His183Tyr | |
| ENST00000557289.2:c.304C>T | ||
| ENST00000682247.1:c.1006C>T | ENSP00000507213.1:p.His336Tyr | |
| ENST00000682382.1:c.578C>T | ||
| ENST00000682395.1:n.735C>T | ||
| ENST00000682459.1:n.670C>T | ||
| ENST00000682467.1:c.1006C>T | ENSP00000508062.1:p.His336Tyr | |
| ENST00000682795.1:c.1006C>T | ENSP00000507574.1:p.His336Tyr | |
| ENST00000682895.1:n.722C>T | ||
| ENST00000682955.1:n.294C>T | ||
| ENST00000683188.1:c.532C>T | ||
| ENST00000683300.1:c.110-2416C>T | ENSP00000507630.1:n.110-2416C>T | |
| ENST00000683328.1:c.109+6003C>T | ENSP00000508096.1:n.109+6003C>T | |
| ENST00000683380.1:n.670C>T | ||
| ENST00000683551.1:c.192C>T | ||
| ENST00000683828.1:c.715C>T | ||
| ENST00000684259.1:n.857C>T | ||
| ENST00000684549.1:n.557C>T | ||
| ENST00000684554.1:c.243C>T | ||
| ENST00000261534.9:c.1006C>T MANE Select | ENSP00000261534.4:p.His336Tyr | |
| ENST00000261534.8:c.1006C>T | ENSP00000261534.4:p.His336Tyr | |
| ENST00000452340.7:n.1029C>T | ||
| ENST00000554767.5:n.1792C>T | ||
| ENST00000557289.1:c.245C>T | ENSP00000451115.1:n.245C>T | |
| NM_013382.5:c.1006C>T , LRG_844t1:c.1006C>T | NP_037514.2:p.His336Tyr | |
| XM_011536675.1:c.1006C>T | XP_011534977.1:p.His336Tyr | |
| XM_011536676.1:c.673C>T | XP_011534978.1:p.His225Tyr | |
| XM_011536677.1:c.548-2416C>T | XP_011534979.1:n.548-2416C>T | |
| XM_011536678.1:c.1006C>T | XP_011534980.1:p.His336Tyr | |
| XM_011536679.1:c.100C>T | XP_011534981.1:p.His34Tyr | |
| XM_011536680.1:c.1006C>T | XP_011534982.1:p.His336Tyr | |
| XR_943416.1:n.1209C>T | ||
| XM_011536675.2:c.1006C>T | XP_011534977.1:p.His336Tyr | |
| XM_011536676.2:c.673C>T | XP_011534978.1:p.His225Tyr | |
| XM_011536677.3:c.548-2416C>T | XP_011534979.1:n.548-2416C>T | |
| XR_001750279.1:n.1206C>T | ||
| XR_001750282.1:n.1210C>T | ||
| XR_943416.3:n.1207C>T | ||
| NM_013382.6:c.1006C>T | NP_037514.2:p.His336Tyr | |
| NM_013382.7:c.1006C>T MANE Select | NP_037514.2:p.His336Tyr |