Linked Data
dbSNP Id:
rs746315862
ExAC:
9:132581164 A / T
gnomAD v2:
9-132581164-A-T
gnomAD v4:
9-129818885-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818885A>T , CM000671.2:g.129818885A>T | GRCh38 |
| NC_000009.11:g.132581164A>T , CM000671.1:g.132581164A>T | GRCh37 |
| NC_000009.10:g.131620985A>T | NCBI36 |
| NG_008049.1:g.10278T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.480T>A MANE Select | ENSP00000345719.4:p.Ser160Arg | |
| ENST00000651202.1:c.576T>A | ENSP00000498222.1:p.Ser192Arg | |
| ENST00000351698.4:c.480T>A | ENSP00000345719.4:p.Ser160Arg | |
| ENST00000473604.2:n.590T>A | ||
| NM_000113.2:c.480T>A | NP_000104.1:p.Ser160Arg | |
| XR_929731.1:n.640T>A | ||
| XR_929731.3:n.508T>A | ||
| NM_000113.3:c.480T>A MANE Select | NP_000104.1:p.Ser160Arg |