Linked Data
ClinVar Variation Id:
205683
dbSNP Id:
rs77029288
ExAC:
16:9857094 T / C
gnomAD v2:
16-9857094-T-C
gnomAD v3:
16-9763237-T-C
gnomAD v4:
16-9763237-T-C
PubMed:
PMID:9526012
PMID:10996561
PMID:18718967
PMID:19286491
PMID:19292755
PMID:20384727
PMID:20890276
PMID:21499247
PMID:21507155
PMID:22833210
PMID:23033978
PMID:23294109
PMID:23933818
PMID:23933819
PMID:23933820
PMID:23940648
PMID:24455489
PMID:24463507
PMID:24504326
PMID:24903190
PMID:25596506
PMID:26220384
PMID:26648591
PMID:28936771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763237T>C , CM000678.2:g.9763237T>C | GRCh38 |
| NC_000016.9:g.9857094T>C , CM000678.1:g.9857094T>C | GRCh37 |
| NC_000016.8:g.9764595T>C | NCBI36 |
| NG_011812.1:g.424518A>G | |
| NG_011812.2:g.424518A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.4307A>G MANE Select | ENSP00000332549.3:p.Asn1436Ser | |
| ENST00000535259.6:c.*118A>G | ENSP00000441572.3:n.*118A>G | |
| ENST00000636273.2:n.3557A>G | ||
| ENST00000674742.1:c.3836A>G | ENSP00000502200.1:p.Asn1279Ser | |
| ENST00000675398.1:c.*1677A>G | ENSP00000502752.1:n.*1677A>G | |
| ENST00000330684.3:c.4307A>G | ENSP00000332549.3:p.Asn1436Ser | |
| ENST00000396573.6:c.4307A>G | ENSP00000379818.2:p.Asn1436Ser | |
| ENST00000396575.6:c.3896A>G | ENSP00000379820.3:p.Asn1299Ser | |
| ENST00000461292.3:n.3603A>G | ||
| ENST00000535259.5:c.*118A>G | ENSP00000441572.2:n.*118A>G | |
| ENST00000562109.5:c.*118A>G | ENSP00000454998.1:n.*118A>G | |
| NM_000833.4:c.4307A>G | NP_000824.1:p.Asn1436Ser | |
| NM_001134407.2:c.4307A>G | NP_001127879.1:p.Asn1436Ser | |
| NM_001134408.2:c.*118A>G | NP_001127880.1:n.*118A>G | |
| XM_011522456.1:c.4148A>G | XP_011520758.1:p.Asn1383Ser | |
| XM_011522457.1:c.4049A>G | XP_011520759.1:p.Asn1350Ser | |
| XM_011522458.1:c.3836A>G | XP_011520760.1:p.Asn1279Ser | |
| XM_011522459.1:c.3836A>G | XP_011520761.1:p.Asn1279Ser | |
| XM_011522460.1:c.3836A>G | XP_011520762.1:p.Asn1279Ser | |
| XM_011522461.1:c.*118A>G | XP_011520763.1:n.*118A>G | |
| XM_011522458.3:c.3836A>G | XP_011520760.1:p.Asn1279Ser | |
| XM_011522461.3:c.*118A>G | XP_011520763.1:n.*118A>G | |
| XM_017023172.1:c.4463A>G | XP_016878661.1:p.Asn1488Ser | |
| XM_017023173.1:c.*118A>G | XP_016878662.1:n.*118A>G | |
| NM_001134407.3:c.4307A>G MANE Select | NP_001127879.1:p.Asn1436Ser | |
| NM_000833.5:c.4307A>G | NP_000824.1:p.Asn1436Ser |