Linked Data
dbSNP Id:
rs200515003
ExAC:
9:137300056 A / G
gnomAD v2:
9-137300056-A-G
gnomAD v3:
9-134408210-A-G
gnomAD v4:
9-134408210-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408210A>G , CM000671.2:g.134408210A>G | GRCh38 |
| NC_000009.11:g.137300056A>G , CM000671.1:g.137300056A>G | GRCh37 |
| NC_000009.10:g.136439877A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.341A>G MANE Select | ENSP00000419692.1:p.Asn114Ser | |
| ENST00000672570.1:c.260A>G | ENSP00000500402.1:p.Asn87Ser | |
| ENST00000356384.4:n.751A>G | ||
| ENST00000481739.1:c.341A>G | ENSP00000419692.1:p.Asn114Ser | |
| NM_001291920.1:c.260A>G | NP_001278849.1:p.Asn87Ser | |
| NM_001291921.1:c.50A>G | NP_001278850.1:p.Asn17Ser | |
| NM_002957.5:c.341A>G | NP_002948.1:p.Asn114Ser | |
| NM_002957.6:c.341A>G MANE Select | NP_002948.1:p.Asn114Ser | |
| NM_001291921.2:c.50A>G | NP_001278850.1:p.Asn17Ser | |
| NM_001291920.2:c.260A>G | NP_001278849.1:p.Asn87Ser |