Linked Data
dbSNP Id:
rs746931041
ExAC:
1:159683421 T / C
gnomAD v2:
1-159683421-T-C
gnomAD v4:
1-159713631-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159713631T>C , CM000663.2:g.159713631T>C | GRCh38 |
| NC_000001.10:g.159683421T>C , CM000663.1:g.159683421T>C | GRCh37 |
| NC_000001.9:g.157950045T>C | NCBI36 |
| NG_013007.1:g.5959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255030.9:c.569A>G MANE Select | ENSP00000255030.5:p.Asn190Ser | |
| ENST00000368110.1:c.203A>G | ENSP00000357091.1:p.Asn68Ser | |
| ENST00000368111.5:c.203A>G | ENSP00000357092.1:p.Asn68Ser | |
| ENST00000368112.5:c.198-28A>G | ENSP00000357093.1:n.198-28A>G | |
| ENST00000437342.1:c.35A>G | ENSP00000402788.1:p.Asn12Ser | |
| ENST00000473196.1:n.137A>G | ||
| ENST00000489317.1:n.74+376A>G | ||
| NM_000567.2:c.569A>G | NP_000558.2:p.Asn190Ser | |
| XM_011509207.1:c.569A>G | XP_011507509.1:p.Asn190Ser | |
| NM_001329057.1:c.569A>G | NP_001315986.1:p.Asn190Ser | |
| NM_001329058.1:c.198-28A>G | NP_001315987.1:n.198-28A>G | |
| NM_000567.3:c.569A>G MANE Select | NP_000558.2:p.Asn190Ser | |
| NM_001329057.2:c.569A>G | NP_001315986.1:p.Asn190Ser | |
| NM_001329058.2:c.198-28A>G | NP_001315987.1:n.198-28A>G | |
| NM_001382703.1:c.203A>G | NP_001369632.1:p.Asn68Ser |