Linked Data
ClinVar Variation Id:
162932
dbSNP Id:
rs555684781
ExAC:
10:73553340 G / A
gnomAD v2:
10-73553340-G-A
gnomAD v3:
10-71793583-G-A
gnomAD v4:
10-71793583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793583G>A , CM000672.2:g.71793583G>A | GRCh38 |
| NC_000010.10:g.73553340G>A , CM000672.1:g.73553340G>A | GRCh37 |
| NC_000010.9:g.73223346G>A | NCBI36 |
| NG_008835.1:g.401637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6655G>A MANE Select | ENSP00000224721.9:p.Asp2219Asn | |
| ENST00000224721.10:c.6670G>A | ENSP00000224721.8:p.Asp2224Asn | |
| ENST00000622827.4:c.6655G>A | ENSP00000483211.1:p.Asp2219Asn | |
| NM_022124.5:c.6655G>A | NP_071407.4:p.Asp2219Asn | |
| XM_006717940.2:c.6850G>A | XP_006718003.1:p.Asp2284Asn | |
| XM_006717942.2:c.6784G>A | XP_006718005.1:p.Asp2262Asn | |
| XM_011540039.1:c.6847G>A | XP_011538341.1:p.Asp2283Asn | |
| XM_011540040.1:c.6844G>A | XP_011538342.1:p.Asp2282Asn | |
| XM_011540041.1:c.6790G>A | XP_011538343.1:p.Asp2264Asn | |
| XM_011540042.1:c.6760G>A | XP_011538344.1:p.Asp2254Asn | |
| XM_011540043.1:c.6850G>A | XP_011538345.1:p.Asp2284Asn | |
| XM_011540044.1:c.6715G>A | XP_011538346.1:p.Asp2239Asn | |
| XM_011540045.1:c.6850G>A | XP_011538347.1:p.Asp2284Asn | |
| XM_011540046.1:c.6310G>A | XP_011538348.1:p.Asp2104Asn | |
| XM_011540047.1:c.5668G>A | XP_011538349.1:p.Asp1890Asn | |
| XM_011540048.1:c.6850G>A | XP_011538350.1:p.Asp2284Asn | |
| XM_011540049.1:c.6850G>A | XP_011538351.1:p.Asp2284Asn | |
| XM_011540050.1:c.6850G>A | XP_011538352.1:p.Asp2284Asn | |
| XM_011540051.1:c.6850G>A | XP_011538353.1:p.Asp2284Asn | |
| XM_011540052.1:c.3178G>A | XP_011538354.1:p.Asp1060Asn | |
| XR_945796.1:n.7093G>A | ||
| NM_022124.6:c.6655G>A MANE Select | NP_071407.4:p.Asp2219Asn |