Linked Data
ClinVar Variation Id:
458673
dbSNP Id:
rs936192871
gnomAD v2:
9-133339504-G-A
gnomAD v3:
9-130464117-G-A
gnomAD v4:
9-130464117-G-A
COSMIC:
COSM5410536
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130464117G>A , CM000671.2:g.130464117G>A | GRCh38 |
| NC_000009.11:g.133339504G>A , CM000671.1:g.133339504G>A | GRCh37 |
| NC_000009.10:g.132329325G>A | NCBI36 |
| NG_011542.1:g.24411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.370G>A MANE Select | ENSP00000253004.6:p.Asp124Asn | |
| ENST00000352480.9:c.370G>A | ENSP00000253004.6:p.Asp124Asn | |
| ENST00000372393.7:c.370G>A | ENSP00000361469.2:p.Asp124Asn | |
| ENST00000372394.5:c.370G>A | ENSP00000361471.1:p.Asp124Asn | |
| ENST00000422569.5:c.370G>A | ENSP00000394212.1:p.Asp124Asn | |
| ENST00000443588.1:c.364-2608G>A | ENSP00000397785.1:n.364-2608G>A | |
| ENST00000467695.5:n.79G>A | ||
| NM_000050.4:c.370G>A | NP_000041.2:p.Asp124Asn | |
| NM_054012.3:c.370G>A | NP_446464.1:p.Asp124Asn | |
| XM_005272200.2:c.370G>A | XP_005272257.1:p.Asp124Asn | |
| XM_011518705.1:c.484G>A | XP_011517007.1:p.Asp162Asn | |
| XM_005272200.3:c.370G>A | XP_005272257.1:p.Asp124Asn | |
| XM_011518705.2:c.484G>A | XP_011517007.1:p.Asp162Asn | |
| XM_017014729.1:c.466G>A | XP_016870218.1:p.Asp156Asn | |
| NM_054012.4:c.370G>A MANE Select | NP_446464.1:p.Asp124Asn |