Linked Data
ClinVar Variation Id:
501676
dbSNP Id:
rs1452558347
gnomAD v2:
14-77743775-G-A
gnomAD v4:
14-77277432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77277432G>A , CM000676.2:g.77277432G>A | GRCh38 |
| NC_000014.8:g.77743775G>A , CM000676.1:g.77743775G>A | GRCh37 |
| NC_000014.7:g.76813528G>A | NCBI36 |
| NG_008897.1:g.48451C>T , LRG_844:g.48451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1122C>T | ||
| ENST00000556394.2:c.1738C>T | ENSP00000451967.2:p.Gln580Ter | |
| ENST00000682247.1:c.2186C>T | ENSP00000507213.1:p.Pro729Leu | |
| ENST00000682395.1:n.2661C>T | ||
| ENST00000682459.1:n.1900C>T | ||
| ENST00000682467.1:c.2056C>T | ENSP00000508062.1:p.Gln686Ter | |
| ENST00000682795.1:c.2344C>T | ENSP00000507574.1:p.Gln782Ter | |
| ENST00000682895.1:n.1913C>T | ||
| ENST00000682897.1:c.50C>T | ||
| ENST00000682955.1:n.1771C>T | ||
| ENST00000683188.1:c.2458C>T | ||
| ENST00000683380.1:n.1861C>T | ||
| ENST00000683784.1:c.50C>T | ||
| ENST00000684259.1:n.3964C>T | ||
| ENST00000684538.1:n.1576C>T | ||
| ENST00000684549.1:n.1748C>T | ||
| ENST00000261534.9:c.2197C>T MANE Select | ENSP00000261534.4:p.Gln733Ter | |
| ENST00000261534.8:c.2197C>T | ENSP00000261534.4:p.Gln733Ter | |
| ENST00000452340.7:n.3173C>T | ||
| ENST00000554767.5:n.2983C>T | ||
| ENST00000555710.1:c.558C>T | ENSP00000451730.1:n.558C>T | |
| ENST00000556394.1:c.252C>T | ||
| ENST00000602717.5:c.363-154C>T | ENSP00000487704.1:n.363-154C>T | |
| NM_013382.5:c.2197C>T , LRG_844t1:c.2197C>T | NP_037514.2:p.Gln733Ter | |
| XM_011536675.1:c.2386C>T | XP_011534977.1:p.Gln796Ter | |
| XM_011536676.1:c.2053C>T | XP_011534978.1:p.Gln685Ter | |
| XM_011536677.1:c.1927C>T | XP_011534979.1:p.Gln643Ter | |
| XM_011536679.1:c.1480C>T | XP_011534981.1:p.Gln494Ter | |
| XR_943416.1:n.2450C>T | ||
| XM_011536675.2:c.2386C>T | XP_011534977.1:p.Gln796Ter | |
| XM_011536676.2:c.2053C>T | XP_011534978.1:p.Gln685Ter | |
| XM_011536677.3:c.1927C>T | XP_011534979.1:p.Gln643Ter | |
| XR_001750279.1:n.2483C>T | ||
| XR_001750282.1:n.3136C>T | ||
| XR_943416.3:n.2448C>T | ||
| NM_013382.6:c.2197C>T | NP_037514.2:p.Gln733Ter | |
| NM_013382.7:c.2197C>T MANE Select | NP_037514.2:p.Gln733Ter |