Linked Data
ClinVar Variation Id:
3130082
ClinVar RCV Id:
RCV004420497
dbSNP Id:
rs757429484
ExAC:
7:150883546 C / T
gnomAD v2:
7-150883546-C-T
gnomAD v3:
7-151186459-C-T
gnomAD v4:
7-151186459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186459C>T , CM000669.2:g.151186459C>T | GRCh38 |
| NC_000007.13:g.150883546C>T , CM000669.1:g.150883546C>T | GRCh37 |
| NC_000007.12:g.150514479C>T | NCBI36 |
| NG_017016.1:g.6374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.517G>A MANE Select | ENSP00000391137.2:p.Asp173Asn | |
| ENST00000275838.5:c.517G>A | ENSP00000275838.1:p.Asp173Asn | |
| ENST00000377867.7:c.472G>A | ENSP00000367098.3:p.Asp158Asn | |
| ENST00000420175.2:c.517G>A | ENSP00000391137.2:p.Asp173Asn | |
| NM_001142459.1:c.517G>A | NP_001135931.2:p.Asp173Asn | |
| NM_001142460.1:c.517G>A | NP_001135932.2:p.Asp173Asn | |
| NM_080871.3:c.472G>A | NP_543147.2:p.Asp158Asn | |
| XM_005249949.3:c.652G>A | XP_005250006.1:p.Asp218Asn | |
| NM_001142459.2:c.517G>A MANE Select | NP_001135931.2:p.Asp173Asn | |
| NM_080871.4:c.472G>A | NP_543147.2:p.Asp158Asn |