Linked Data
dbSNP Id:
rs747755961
ExAC:
9:132581171 T / C
gnomAD v2:
9-132581171-T-C
gnomAD v4:
9-129818892-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818892T>C , CM000671.2:g.129818892T>C | GRCh38 |
| NC_000009.11:g.132581171T>C , CM000671.1:g.132581171T>C | GRCh37 |
| NC_000009.10:g.131620992T>C | NCBI36 |
| NG_008049.1:g.10271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.473A>G MANE Select | ENSP00000345719.4:p.Asn158Ser | |
| ENST00000651202.1:c.569A>G | ENSP00000498222.1:p.Asn190Ser | |
| ENST00000351698.4:c.473A>G | ENSP00000345719.4:p.Asn158Ser | |
| ENST00000473604.2:n.583A>G | ||
| NM_000113.2:c.473A>G | NP_000104.1:p.Asn158Ser | |
| XR_929731.1:n.633A>G | ||
| XR_929731.3:n.501A>G | ||
| NM_000113.3:c.473A>G MANE Select | NP_000104.1:p.Asn158Ser |