Linked Data
ClinVar Variation Id:
319440
ClinVar RCV Id:
RCV001121730
RCV001726112
RCV001702425
RCV001782804
RCV002263013
RCV002521029
RCV003972362
dbSNP Id:
rs5743271
ExAC:
16:50744688 A / G
gnomAD v2:
16-50744688-A-G
gnomAD v3:
16-50710777-A-G
gnomAD v4:
16-50710777-A-G
PubMed:
PMID:11875755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50710777A>G , CM000678.2:g.50710777A>G | GRCh38 |
| NC_000016.9:g.50744688A>G , CM000678.1:g.50744688A>G | GRCh37 |
| NC_000016.8:g.49302189A>G | NCBI36 |
| NG_007508.1:g.18639A>G , LRG_177:g.18639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.785A>G | ENSP00000493088.1:p.Asn262Ser | |
| ENST00000646677.2:c.785A>G | ENSP00000496533.1:p.Asn262Ser | |
| ENST00000641284.1:c.785A>G | ENSP00000493088.1:p.Asn262Ser | |
| ENST00000646677.1:c.785A>G | ENSP00000496533.1:p.Asn262Ser | |
| ENST00000647318.2:c.785A>G MANE Select | ENSP00000495993.1:p.Asn262Ser | |
| ENST00000300589.6:c.866A>G | ENSP00000300589.2:p.Asn289Ser | |
| ENST00000526417.6:n.926A>G | ||
| ENST00000527070.5:c.*1481A>G | ENSP00000435149.1:n.*1481A>G | |
| ENST00000532206.1:n.864A>G | ||
| NM_001293557.1:c.785A>G | NP_001280486.1:p.Asn262Ser | |
| NM_022162.2:c.866A>G | NP_071445.1:p.Asn289Ser | |
| XM_005256084.2:c.785A>G | XP_005256141.1:p.Asn262Ser | |
| XM_006721242.2:c.785A>G | XP_006721305.1:p.Asn262Ser | |
| XM_006721243.2:c.785A>G | XP_006721306.1:p.Asn262Ser | |
| XM_011523257.1:c.362A>G | XP_011521559.1:p.Asn121Ser | |
| XM_011523258.1:c.362A>G | XP_011521560.1:p.Asn121Ser | |
| XM_011523259.1:c.200A>G | XP_011521561.1:p.Asn67Ser | |
| XM_011523260.1:c.785A>G | XP_011521562.1:p.Asn262Ser | |
| XM_011523261.1:c.785A>G | XP_011521563.1:p.Asn262Ser | |
| XR_429725.2:n.875A>G | ||
| XR_429726.2:n.875A>G | ||
| XR_933387.1:n.875A>G | ||
| XM_005256084.4:c.785A>G | XP_005256141.1:p.Asn262Ser | |
| XM_006721242.4:c.785A>G | XP_006721305.1:p.Asn262Ser | |
| XM_006721243.4:c.785A>G | XP_006721306.1:p.Asn262Ser | |
| XM_011523259.2:c.200A>G | XP_011521561.1:p.Asn67Ser | |
| XM_011523260.3:c.785A>G | XP_011521562.1:p.Asn262Ser | |
| XM_011523261.2:c.785A>G | XP_011521563.1:p.Asn262Ser | |
| XM_017023535.1:c.293A>G | XP_016879024.1:p.Asn98Ser | |
| XM_017023536.1:c.200A>G | XP_016879025.1:p.Asn67Ser | |
| XM_017023537.1:c.200A>G | XP_016879026.1:p.Asn67Ser | |
| XM_017023538.1:c.200A>G | XP_016879027.1:p.Asn67Ser | |
| XR_429725.3:n.828A>G | ||
| XR_429726.3:n.828A>G | ||
| XR_933387.2:n.828A>G | ||
| NM_001293557.2:c.785A>G | NP_001280486.1:p.Asn262Ser | |
| NM_001370466.1:c.785A>G MANE Select | NP_001357395.1:p.Asn262Ser | |
| NM_022162.3:c.866A>G | NP_071445.1:p.Asn289Ser | |
| NR_163434.1:n.850A>G |