Linked Data
ClinVar Variation Id:
2195339
ClinVar RCV Id:
RCV002628596
dbSNP Id:
rs373937061
ExAC:
4:88967997 A / G
gnomAD v2:
4-88967997-A-G
gnomAD v3:
4-88046845-A-G
gnomAD v4:
4-88046845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046845A>G , CM000666.2:g.88046845A>G | GRCh38 |
| NC_000004.11:g.88967997A>G , CM000666.1:g.88967997A>G | GRCh37 |
| NC_000004.10:g.89187021A>G | NCBI36 |
| NG_008604.1:g.44178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1523A>G MANE Select | ENSP00000237596.2:p.Asn508Ser | |
| ENST00000237596.6:c.1523A>G | ENSP00000237596.2:p.Asn508Ser | |
| ENST00000508588.5:c.-199+3388A>G | ENSP00000427131.1:n.-199+3388A>G | |
| NM_000297.3:c.1523A>G | NP_000288.1:p.Asn508Ser | |
| XM_011532028.1:c.1298A>G | XP_011530330.1:p.Asn433Ser | |
| XM_011532029.1:c.803A>G | XP_011530331.1:p.Asn268Ser | |
| XM_011532030.1:c.683A>G | XP_011530332.1:p.Asn228Ser | |
| XR_244632.2:n.1618A>G | ||
| NR_156488.1:n.1610A>G | ||
| XM_011532028.2:c.1298A>G | XP_011530330.1:p.Asn433Ser | |
| XM_011532030.2:c.683A>G | XP_011530332.1:p.Asn228Ser | |
| NM_000297.4:c.1523A>G MANE Select | NP_000288.1:p.Asn508Ser | |
| NR_156488.2:n.1622A>G |