Linked Data
ClinVar Variation Id:
449602
ClinVar RCV Id:
RCV000521620
dbSNP Id:
rs1555481948
gnomAD v4:
16-9763239-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763239C>G , CM000678.2:g.9763239C>G | GRCh38 |
| NC_000016.9:g.9857096C>G , CM000678.1:g.9857096C>G | GRCh37 |
| NC_000016.8:g.9764597C>G | NCBI36 |
| NG_011812.1:g.424516G>C | |
| NG_011812.2:g.424516G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4305G>C MANE Select | ENSP00000332549.3:p.Lys1435Asn | |
| ENST00000535259.6:c.*116G>C | ENSP00000441572.3:n.*116G>C | |
| ENST00000636273.2:n.3555G>C | ||
| ENST00000674742.1:c.3834G>C | ENSP00000502200.1:p.Lys1278Asn | |
| ENST00000675398.1:c.*1675G>C | ENSP00000502752.1:n.*1675G>C | |
| ENST00000330684.3:c.4305G>C | ENSP00000332549.3:p.Lys1435Asn | |
| ENST00000396573.6:c.4305G>C | ENSP00000379818.2:p.Lys1435Asn | |
| ENST00000396575.6:c.3894G>C | ENSP00000379820.3:p.Lys1298Asn | |
| ENST00000461292.3:n.3601G>C | ||
| ENST00000535259.5:c.*116G>C | ENSP00000441572.2:n.*116G>C | |
| ENST00000562109.5:c.*116G>C | ENSP00000454998.1:n.*116G>C | |
| NM_000833.4:c.4305G>C | NP_000824.1:p.Lys1435Asn | |
| NM_001134407.2:c.4305G>C | NP_001127879.1:p.Lys1435Asn | |
| NM_001134408.2:c.*116G>C | NP_001127880.1:n.*116G>C | |
| XM_011522456.1:c.4146G>C | XP_011520758.1:p.Lys1382Asn | |
| XM_011522457.1:c.4047G>C | XP_011520759.1:p.Lys1349Asn | |
| XM_011522458.1:c.3834G>C | XP_011520760.1:p.Lys1278Asn | |
| XM_011522459.1:c.3834G>C | XP_011520761.1:p.Lys1278Asn | |
| XM_011522460.1:c.3834G>C | XP_011520762.1:p.Lys1278Asn | |
| XM_011522461.1:c.*116G>C | XP_011520763.1:n.*116G>C | |
| XM_011522458.3:c.3834G>C | XP_011520760.1:p.Lys1278Asn | |
| XM_011522461.3:c.*116G>C | XP_011520763.1:n.*116G>C | |
| XM_017023172.1:c.4461G>C | XP_016878661.1:p.Lys1487Asn | |
| XM_017023173.1:c.*116G>C | XP_016878662.1:n.*116G>C | |
| NM_001134407.3:c.4305G>C MANE Select | NP_001127879.1:p.Lys1435Asn | |
| NM_000833.5:c.4305G>C | NP_000824.1:p.Lys1435Asn |