Linked Data
ClinVar Variation Id:
900308
ClinVar RCV Id:
RCV001145408
dbSNP Id:
rs761243441
ExAC:
4:178358583 C / T
gnomAD v2:
4-178358583-C-T
gnomAD v3:
4-177437429-C-T
gnomAD v4:
4-177437429-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177437429C>T , CM000666.2:g.177437429C>T | GRCh38 |
| NC_000004.11:g.178358583C>T , CM000666.1:g.178358583C>T | GRCh37 |
| NC_000004.10:g.178595577C>T | NCBI36 |
| NG_011845.2:g.10075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.598G>A MANE Select | ENSP00000264595.2:p.Asp200Asn | |
| ENST00000264595.6:c.598G>A | ENSP00000264595.2:p.Asp200Asn | |
| ENST00000502310.5:c.253G>A | ENSP00000423798.1:p.Asp85Asn | |
| ENST00000506853.5:n.632G>A | ||
| ENST00000510635.1:c.294G>A | ||
| ENST00000510955.5:n.519G>A | ||
| NM_000027.3:c.598G>A | NP_000018.2:p.Asp200Asn | |
| NM_001171988.1:c.598G>A | NP_001165459.1:p.Asp200Asn | |
| NR_033655.1:n.726G>A | ||
| XM_006714123.2:c.598G>A | XP_006714186.1:p.Asp200Asn | |
| XR_001741155.2:n.692G>A | ||
| NM_000027.4:c.598G>A MANE Select | NP_000018.2:p.Asp200Asn | |
| NM_001171988.2:c.598G>A | NP_001165459.1:p.Asp200Asn | |
| NR_033655.2:n.660G>A |