Linked Data
ClinVar Variation Id:
707831
ClinVar RCV Id:
RCV000878991
dbSNP Id:
rs139365610
ExAC:
19:50310605 C / T
gnomAD v2:
19-50310605-C-T
gnomAD v3:
19-49807348-C-T
gnomAD v4:
19-49807348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49807348C>T , CM000681.2:g.49807348C>T | GRCh38 |
| NC_000019.9:g.50310605C>T , CM000681.1:g.50310605C>T | GRCh37 |
| NC_000019.8:g.55002417C>T | NCBI36 |
| NG_032843.1:g.10963G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313777.9:c.1060G>A MANE Select | ENSP00000313309.4:p.Asp354Asn | |
| ENST00000313777.8:c.1060G>A | ENSP00000313309.4:p.Asp354Asn | |
| ENST00000377092.8:c.*800G>A | ENSP00000366296.5:n.*800G>A | |
| ENST00000525130.5:c.*714G>A | ENSP00000433492.1:n.*714G>A | |
| ENST00000525370.5:c.*717G>A | ENSP00000431420.1:n.*717G>A | |
| ENST00000528094.5:c.952G>A | ENSP00000435177.1:p.Asp318Asn | |
| ENST00000529634.2:c.216G>A | ||
| ENST00000533418.5:c.910G>A | ENSP00000431731.1:p.Asp304Asn | |
| NM_001171937.1:c.952G>A | NP_001165408.1:p.Asp318Asn | |
| NM_025129.4:c.1060G>A | NP_079405.2:p.Asp354Asn | |
| NR_033269.1:n.1179G>A | ||
| XM_006723399.2:c.*46G>A | XP_006723462.1:n.*46G>A | |
| XM_011527339.1:c.1063G>A | XP_011525641.1:p.Asp355Asn | |
| XM_011527340.1:c.913G>A | XP_011525642.1:p.Asp305Asn | |
| XM_011527341.1:c.913G>A | XP_011525643.1:p.Asp305Asn | |
| XM_011527342.1:c.892G>A | XP_011525644.1:p.Asp298Asn | |
| XM_011527343.1:c.*46G>A | XP_011525645.1:n.*46G>A | |
| XM_011527344.1:c.865G>A | XP_011525646.1:p.Asp289Asn | |
| XM_011527345.1:c.763G>A | XP_011525647.1:p.Asp255Asn | |
| XM_011527346.1:c.763G>A | XP_011525648.1:p.Asp255Asn | |
| XM_011527347.1:c.763G>A | XP_011525649.1:p.Asp255Asn | |
| XR_935862.1:n.1428G>A | ||
| NM_001352262.1:c.1063G>A | NP_001339191.1:p.Asp355Asn | |
| NM_001363663.1:c.910G>A | NP_001350592.1:p.Asp304Asn | |
| XM_006723399.3:c.*46G>A | XP_006723462.1:n.*46G>A | |
| XM_011527341.2:c.913G>A | XP_011525643.1:p.Asp305Asn | |
| XM_011527342.2:c.892G>A | XP_011525644.1:p.Asp298Asn | |
| XM_017027321.1:c.760G>A | XP_016882810.1:p.Asp254Asn | |
| XM_017027322.2:c.*46G>A | XP_016882811.1:n.*46G>A | |
| XM_024451729.1:c.892G>A | XP_024307497.1:p.Asp298Asn | |
| XM_024451730.1:c.889G>A | XP_024307498.1:p.Asp297Asn | |
| XR_001753764.1:n.1835G>A | ||
| XR_001753765.1:n.1135G>A | ||
| XR_002958363.1:n.2086G>A | ||
| XR_002958364.1:n.1832G>A | ||
| XR_002958365.1:n.1725G>A | ||
| NM_001171937.2:c.952G>A | NP_001165408.1:p.Asp318Asn | |
| NM_001352262.2:c.1063G>A | NP_001339191.1:p.Asp355Asn | |
| NM_025129.5:c.1060G>A MANE Select | NP_079405.2:p.Asp354Asn | |
| NR_033269.2:n.1161G>A |