Linked Data
dbSNP Id:
rs772269963
ExAC:
11:18291335 A / T
gnomAD v2:
11-18291335-A-T
gnomAD v4:
11-18269788-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18269788A>T , CM000673.2:g.18269788A>T | GRCh38 |
| NC_000011.9:g.18291335A>T , CM000673.1:g.18291335A>T | GRCh37 |
| NC_000011.8:g.18247911A>T | NCBI36 |
| NG_021330.1:g.8528A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689650.1:c.*451A>T | ENSP00000509190.1:n.*451A>T | |
| ENST00000356524.9:c.302A>T MANE Select | ENSP00000348918.4:p.Asn101Ile | |
| ENST00000649195.1:c.*99A>T | ENSP00000497498.1:n.*99A>T | |
| ENST00000356524.8:c.302A>T | ENSP00000348918.4:p.Asn101Ile | |
| ENST00000405158.2:c.302A>T | ENSP00000384906.2:p.Asn101Ile | |
| ENST00000532858.5:c.302A>T | ENSP00000436866.1:p.Asn101Ile | |
| NM_000331.4:c.302A>T | NP_000322.2:p.Asn101Ile | |
| NM_001178006.1:c.302A>T | NP_001171477.1:p.Asn101Ile | |
| NM_199161.3:c.302A>T | NP_954630.1:p.Asn101Ile | |
| NM_000331.5:c.302A>T | NP_000322.2:p.Asn101Ile | |
| NM_001178006.2:c.302A>T | NP_001171477.1:p.Asn101Ile | |
| NM_199161.4:c.302A>T | NP_954630.1:p.Asn101Ile | |
| NM_199161.5:c.302A>T MANE Select | NP_954630.2:p.Asn101Ile | |
| NM_000331.6:c.302A>T | NP_000322.3:p.Asn101Ile | |
| NM_001178006.3:c.302A>T | NP_001171477.2:p.Asn101Ile |