Linked Data
ClinVar Variation Id:
100009
dbSNP Id:
rs137852870
ExAC:
19:41930487 T / A
gnomAD v2:
19-41930487-T-A
gnomAD v3:
19-41424582-T-A
gnomAD v4:
19-41424582-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424582T>A , CM000681.2:g.41424582T>A | GRCh38 |
| NC_000019.9:g.41930487T>A , CM000681.1:g.41930487T>A | GRCh37 |
| NC_000019.8:g.46622327T>A | NCBI36 |
| NG_013004.1:g.31794T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.1312T>A MANE Select | ENSP00000269980.2:p.Tyr438Asn | |
| ENST00000269980.6:c.1312T>A | ENSP00000269980.2:p.Tyr438Asn | |
| ENST00000457836.6:c.1321T>A | ENSP00000416000.2:p.Tyr441Asn | |
| ENST00000540732.3:c.1414T>A | ENSP00000443246.1:p.Tyr472Asn | |
| ENST00000544905.1:c.142T>A | ||
| ENST00000595085.5:c.922+1885T>A | ENSP00000471150.2:n.922+1885T>A | |
| NM_000709.3:c.1312T>A | NP_000700.1:p.Tyr438Asn | |
| NM_001164783.1:c.1309T>A | NP_001158255.1:p.Tyr437Asn | |
| NM_000709.4:c.1312T>A MANE Select | NP_000700.1:p.Tyr438Asn | |
| NM_001164783.2:c.1309T>A | NP_001158255.1:p.Tyr437Asn |