Linked Data
ClinVar Variation Id:
3036984
ClinVar RCV Id:
RCV003913959
dbSNP Id:
rs373319764
gnomAD v3:
19-54178853-C-T
gnomAD v4:
19-54178853-C-T
MyVariant Identifiers:
chr19:g.54178853C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54178853C>T , CM000681.2:g.54178853C>T | GRCh38 |
| NC_000019.8:g.59374382C>T | NCBI36 |
| NG_033045.2:g.16023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.943G>A MANE Select | ENSP00000245615.1:p.Asp315Asn | |
| ENST00000245615.5:c.943G>A | ENSP00000245615.1:p.Asp315Asn | |
| ENST00000338624.10:c.724G>A | ENSP00000344377.5:p.Asp242Asn | |
| ENST00000391754.5:c.943G>A | ENSP00000375634.1:p.Asp315Asn | |
| ENST00000431666.6:c.724G>A | ENSP00000410503.2:p.Asp242Asn | |
| ENST00000437868.5:c.*603G>A | ENSP00000404915.1:n.*603G>A | |
| ENST00000449249.5:c.350-4422G>A | ENSP00000406794.1:n.350-4422G>A | |
| ENST00000494142.1:n.1938G>A | ||
| NM_001146056.2:c.724G>A | NP_001139528.1:p.Asp242Asn | |
| NM_001146082.2:c.943G>A | NP_001139554.1:p.Asp315Asn | |
| NM_001146083.2:c.724G>A | NP_001139555.1:p.Asp242Asn | |
| NM_024298.4:c.943G>A | NP_077274.3:p.Asp315Asn | |
| XM_011527299.1:c.943G>A | XP_011525601.1:p.Asp315Asn | |
| XM_011527300.1:c.943G>A | XP_011525602.1:p.Asp315Asn | |
| XM_011527299.3:c.943G>A | XP_011525601.1:p.Asp315Asn | |
| XM_011527300.2:c.943G>A | XP_011525602.1:p.Asp315Asn | |
| XM_017027296.2:c.943G>A | XP_016882785.1:p.Asp315Asn | |
| NM_024298.5:c.943G>A MANE Select | NP_077274.3:p.Asp315Asn | |
| NM_001146056.3:c.724G>A | NP_001139528.1:p.Asp242Asn | |
| NM_001146082.3:c.943G>A | NP_001139554.1:p.Asp315Asn | |
| NM_001146083.3:c.724G>A | NP_001139555.1:p.Asp242Asn |