Linked Data
ClinVar Variation Id:
2150149
ClinVar RCV Id:
RCV003067424
dbSNP Id:
rs1186812417
gnomAD v2:
14-77744836-G-T
gnomAD v4:
14-77278493-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278493G>T , CM000676.2:g.77278493G>T | GRCh38 |
| NC_000014.8:g.77744836G>T , CM000676.1:g.77744836G>T | GRCh37 |
| NC_000014.7:g.76814589G>T | NCBI36 |
| NG_008897.1:g.47390C>A , LRG_844:g.47390C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.973C>A | ||
| ENST00000556394.2:c.1589C>A | ENSP00000451967.2:p.Thr530Asn | |
| ENST00000682247.1:c.2037C>A | ENSP00000507213.1:p.His679Gln | |
| ENST00000682395.1:n.2512C>A | ||
| ENST00000682459.1:n.1751C>A | ||
| ENST00000682467.1:c.1907C>A | ENSP00000508062.1:p.Thr636Asn | |
| ENST00000682795.1:c.2195C>A | ENSP00000507574.1:p.Thr732Asn | |
| ENST00000682895.1:n.1764C>A | ||
| ENST00000682955.1:n.1622C>A | ||
| ENST00000683188.1:c.2309C>A | ||
| ENST00000683380.1:n.1712C>A | ||
| ENST00000683907.1:c.313C>A | ENSP00000507754.1:n.313C>A | |
| ENST00000684259.1:n.3815C>A | ||
| ENST00000684538.1:n.1427C>A | ||
| ENST00000684549.1:n.1599C>A | ||
| ENST00000261534.9:c.2048C>A MANE Select | ENSP00000261534.4:p.Thr683Asn | |
| ENST00000261534.8:c.2048C>A | ENSP00000261534.4:p.Thr683Asn | |
| ENST00000452340.7:n.3024C>A | ||
| ENST00000554767.5:n.2834C>A | ||
| ENST00000555710.1:c.409C>A | ENSP00000451730.1:n.409C>A | |
| ENST00000556394.1:c.103C>A | ||
| ENST00000556446.1:n.349C>A | ||
| ENST00000602717.5:c.263C>A | ENSP00000487704.1:p.Thr88Asn | |
| NM_013382.5:c.2048C>A , LRG_844t1:c.2048C>A | NP_037514.2:p.Thr683Asn | |
| XM_011536675.1:c.2237C>A | XP_011534977.1:p.Thr746Asn | |
| XM_011536676.1:c.1904C>A | XP_011534978.1:p.Thr635Asn | |
| XM_011536677.1:c.1778C>A | XP_011534979.1:p.Thr593Asn | |
| XM_011536679.1:c.1331C>A | XP_011534981.1:p.Thr444Asn | |
| XR_943416.1:n.2301C>A | ||
| XM_011536675.2:c.2237C>A | XP_011534977.1:p.Thr746Asn | |
| XM_011536676.2:c.1904C>A | XP_011534978.1:p.Thr635Asn | |
| XM_011536677.3:c.1778C>A | XP_011534979.1:p.Thr593Asn | |
| XR_001750279.1:n.2334C>A | ||
| XR_001750282.1:n.2987C>A | ||
| XR_943416.3:n.2299C>A | ||
| NM_013382.6:c.2048C>A | NP_037514.2:p.Thr683Asn | |
| NM_013382.7:c.2048C>A MANE Select | NP_037514.2:p.Thr683Asn |