Linked Data
ClinVar Variation Id:
1476977
ClinVar RCV Id:
RCV002014959
dbSNP Id:
rs745559078
ExAC:
8:90960081 C / T
gnomAD v2:
8-90960081-C-T
gnomAD v4:
8-89947853-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89947853C>T , CM000670.2:g.89947853C>T | GRCh38 |
| NC_000008.10:g.90960081C>T , CM000670.1:g.90960081C>T | GRCh37 |
| NC_000008.9:g.91029257C>T | NCBI36 |
| NG_008860.1:g.41819G>A , LRG_158:g.41819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3187G>A | ||
| ENST00000517337.2:c.1639G>A | ENSP00000429971.2:p.Asp547Asn | |
| ENST00000523444.2:c.1639G>A | ENSP00000428252.2:p.Asp547Asn | |
| ENST00000697292.1:c.1885G>A | ENSP00000513229.1:p.Asp629Asn | |
| ENST00000697293.1:c.1885G>A | ENSP00000513230.1:p.Asp629Asn | |
| ENST00000697294.1:c.*1496G>A | ENSP00000513231.1:n.*1496G>A | |
| ENST00000697295.1:c.*1194G>A | ENSP00000513232.1:n.*1194G>A | |
| ENST00000697296.1:c.*1553G>A | ENSP00000513233.1:n.*1553G>A | |
| ENST00000697297.1:n.3670G>A | ||
| ENST00000697298.1:c.1639G>A | ENSP00000513234.1:p.Asp547Asn | |
| ENST00000697299.1:c.1639G>A | ENSP00000513235.1:p.Asp547Asn | |
| ENST00000697300.1:c.*1489G>A | ENSP00000513236.1:n.*1489G>A | |
| ENST00000697301.1:c.*1406G>A | ENSP00000513237.1:n.*1406G>A | |
| ENST00000697302.1:c.*1406G>A | ENSP00000513238.1:n.*1406G>A | |
| ENST00000697303.1:c.*1489G>A | ENSP00000513239.1:n.*1489G>A | |
| ENST00000697304.1:c.1573G>A | ENSP00000513240.1:p.Asp525Asn | |
| ENST00000697306.1:c.*908G>A | ENSP00000513241.1:n.*908G>A | |
| ENST00000697307.1:c.1846-4487G>A | ENSP00000513242.1:n.1846-4487G>A | |
| ENST00000697308.1:c.1846-1558G>A | ENSP00000513243.1:n.1846-1558G>A | |
| ENST00000697309.1:c.1885G>A | ENSP00000513244.1:p.Asp629Asn | |
| ENST00000697310.1:c.1885G>A | ENSP00000513245.1:p.Asp629Asn | |
| ENST00000697311.1:c.1885G>A | ENSP00000513246.1:p.Asp629Asn | |
| ENST00000697312.1:c.*1283G>A | ENSP00000513247.1:n.*1283G>A | |
| ENST00000697313.1:n.2688-12241G>A | ||
| ENST00000697314.1:n.3636+5391G>A | ||
| ENST00000697315.1:c.1885G>A | ENSP00000513248.1:p.Asp629Asn | |
| ENST00000697316.1:n.2006G>A | ||
| ENST00000697317.1:n.1995G>A | ||
| ENST00000265433.8:c.1885G>A MANE Select | ENSP00000265433.4:p.Asp629Asn | |
| ENST00000265433.7:c.1885G>A | ENSP00000265433.3:p.Asp629Asn | |
| ENST00000396252.6:c.*1758G>A | ENSP00000379551.2:n.*1758G>A | |
| ENST00000409330.5:c.1639G>A | ENSP00000386924.1:p.Asp547Asn | |
| ENST00000613033.1:c.151G>A | ENSP00000484487.1:p.Asp51Asn | |
| NM_001024688.2:c.1639G>A | NP_001019859.1:p.Asp547Asn | |
| NM_002485.4:c.1885G>A , LRG_158t1:c.1885G>A | NP_002476.2:p.Asp629Asn | |
| XM_011517044.1:c.1861G>A | XP_011515346.1:p.Asp621Asn | |
| XM_011517045.1:c.1639G>A | XP_011515347.1:p.Asp547Asn | |
| XR_928335.1:n.2024G>A | ||
| XM_017013460.1:c.1006G>A | XP_016868949.1:p.Asp336Asn | |
| XM_017013462.2:c.1006G>A | XP_016868951.1:p.Asp336Asn | |
| XM_024447163.1:c.1639G>A | XP_024302931.1:p.Asp547Asn | |
| XM_024447164.1:c.1639G>A | XP_024302932.1:p.Asp547Asn | |
| XM_024447165.1:c.1006G>A | XP_024302933.1:p.Asp336Asn | |
| NM_002485.5:c.1885G>A MANE Select | NP_002476.2:p.Asp629Asn | |
| NM_001024688.3:c.1639G>A | NP_001019859.1:p.Asp547Asn |