Linked Data
ClinVar Variation Id:
2170482
dbSNP Id:
rs367905706
ExAC:
16:50763791 A / G
gnomAD v2:
16-50763791-A-G
gnomAD v3:
16-50729880-A-G
gnomAD v4:
16-50729880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50729880A>G , CM000678.2:g.50729880A>G | GRCh38 |
| NC_000016.9:g.50763791A>G , CM000678.1:g.50763791A>G | GRCh37 |
| NC_000016.8:g.49321292A>G | NCBI36 |
| NG_007508.1:g.37742A>G , LRG_177:g.37742A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.*62A>G | ENSP00000493088.1:n.*62A>G | |
| ENST00000646677.2:c.*713A>G | ENSP00000496533.1:n.*713A>G | |
| ENST00000697428.1:n.2426A>G | ||
| ENST00000641284.1:c.*62A>G | ENSP00000493088.1:n.*62A>G | |
| ENST00000646677.1:c.*713A>G | ENSP00000496533.1:n.*713A>G | |
| ENST00000647318.2:c.2948A>G MANE Select | ENSP00000495993.1:p.Asn983Ser | |
| ENST00000300589.6:c.3029A>G | ENSP00000300589.2:p.Asn1010Ser | |
| NM_001293557.1:c.2948A>G | NP_001280486.1:p.Asn983Ser | |
| NM_022162.2:c.3029A>G | NP_071445.1:p.Asn1010Ser | |
| XM_005256084.2:c.2948A>G | XP_005256141.1:p.Asn983Ser | |
| XM_006721242.2:c.2864A>G | XP_006721305.1:p.Asn955Ser | |
| XM_011523257.1:c.2525A>G | XP_011521559.1:p.Asn842Ser | |
| XM_011523258.1:c.2525A>G | XP_011521560.1:p.Asn842Ser | |
| XM_011523259.1:c.2363A>G | XP_011521561.1:p.Asn788Ser | |
| XM_005256084.4:c.2948A>G | XP_005256141.1:p.Asn983Ser | |
| XM_006721242.4:c.2864A>G | XP_006721305.1:p.Asn955Ser | |
| XM_011523259.2:c.2363A>G | XP_011521561.1:p.Asn788Ser | |
| XM_017023535.1:c.2456A>G | XP_016879024.1:p.Asn819Ser | |
| XM_017023536.1:c.2363A>G | XP_016879025.1:p.Asn788Ser | |
| XM_017023537.1:c.2363A>G | XP_016879026.1:p.Asn788Ser | |
| XM_017023538.1:c.2363A>G | XP_016879027.1:p.Asn788Ser | |
| NM_001293557.2:c.2948A>G | NP_001280486.1:p.Asn983Ser | |
| NM_001370466.1:c.2948A>G MANE Select | NP_001357395.1:p.Asn983Ser | |
| NM_022162.3:c.3029A>G | NP_071445.1:p.Asn1010Ser | |
| NR_163434.1:n.3160A>G |