Linked Data
ClinVar Variation Id:
407116
ClinVar RCV Id:
RCV002230775
dbSNP Id:
rs1060501411
gnomAD v2:
9-130587604-C-T
gnomAD v4:
9-127825325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825325C>T , CM000671.2:g.127825325C>T | GRCh38 |
| NC_000009.11:g.130587604C>T , CM000671.1:g.130587604C>T | GRCh37 |
| NC_000009.10:g.129627425C>T | NCBI36 |
| NG_009551.1:g.34444G>A , LRG_589:g.34444G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.176G>A | ENSP00000479015.1:p.Ser59Asn | |
| ENST00000373203.9:c.722G>A MANE Select | ENSP00000362299.4:p.Ser241Asn | |
| ENST00000344849.4:c.722G>A | ENSP00000341917.3:p.Ser241Asn | |
| ENST00000373203.8:c.722G>A | ENSP00000362299.4:p.Ser241Asn | |
| ENST00000480266.5:c.176G>A | ENSP00000479015.1:p.Ser59Asn | |
| NM_000118.3:c.722G>A , LRG_589t1:c.722G>A | NP_000109.1:p.Ser241Asn | |
| NM_001114753.2:c.722G>A , LRG_589t2:c.722G>A | NP_001108225.1:p.Ser241Asn | |
| NM_001278138.1:c.176G>A | NP_001265067.1:p.Ser59Asn | |
| NM_001114753.3:c.722G>A MANE Select | NP_001108225.1:p.Ser241Asn | |
| NM_001278138.2:c.176G>A | NP_001265067.1:p.Ser59Asn |