Linked Data
ClinVar Variation Id:
4922
ClinVar RCV Id:
RCV000005204
RCV000599622
RCV000710063
RCV000809058
RCV001826421
RCV003987312
RCV003472976
dbSNP Id:
rs111033271
ExAC:
10:73553127 G / A
gnomAD v2:
10-73553127-G-A
gnomAD v3:
10-71793370-G-A
gnomAD v4:
10-71793370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793370G>A , CM000672.2:g.71793370G>A | GRCh38 |
| NC_000010.10:g.73553127G>A , CM000672.1:g.73553127G>A | GRCh37 |
| NC_000010.9:g.73223133G>A | NCBI36 |
| NG_008835.1:g.401424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6442G>A MANE Select | ENSP00000224721.9:p.Asp2148Asn | |
| ENST00000224721.10:c.6457G>A | ENSP00000224721.8:p.Asp2153Asn | |
| ENST00000622827.4:c.6442G>A | ENSP00000483211.1:p.Asp2148Asn | |
| NM_022124.5:c.6442G>A | NP_071407.4:p.Asp2148Asn | |
| XM_006717940.2:c.6637G>A | XP_006718003.1:p.Asp2213Asn | |
| XM_006717942.2:c.6571G>A | XP_006718005.1:p.Asp2191Asn | |
| XM_011540039.1:c.6634G>A | XP_011538341.1:p.Asp2212Asn | |
| XM_011540040.1:c.6631G>A | XP_011538342.1:p.Asp2211Asn | |
| XM_011540041.1:c.6577G>A | XP_011538343.1:p.Asp2193Asn | |
| XM_011540042.1:c.6578-31G>A | XP_011538344.1:n.6578-31G>A | |
| XM_011540043.1:c.6637G>A | XP_011538345.1:p.Asp2213Asn | |
| XM_011540044.1:c.6502G>A | XP_011538346.1:p.Asp2168Asn | |
| XM_011540045.1:c.6637G>A | XP_011538347.1:p.Asp2213Asn | |
| XM_011540046.1:c.6097G>A | XP_011538348.1:p.Asp2033Asn | |
| XM_011540047.1:c.5455G>A | XP_011538349.1:p.Asp1819Asn | |
| XM_011540048.1:c.6637G>A | XP_011538350.1:p.Asp2213Asn | |
| XM_011540049.1:c.6637G>A | XP_011538351.1:p.Asp2213Asn | |
| XM_011540050.1:c.6637G>A | XP_011538352.1:p.Asp2213Asn | |
| XM_011540051.1:c.6637G>A | XP_011538353.1:p.Asp2213Asn | |
| XM_011540052.1:c.2965G>A | XP_011538354.1:p.Asp989Asn | |
| XR_945796.1:n.6880G>A | ||
| NM_022124.6:c.6442G>A MANE Select | NP_071407.4:p.Asp2148Asn |