Linked Data
ClinVar Variation Id:
1093039
dbSNP Id:
rs1015416257
gnomAD v3:
19-41422198-T-C
gnomAD v4:
19-41422198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422198T>C , CM000681.2:g.41422198T>C | GRCh38 |
| NC_000019.9:g.41928103T>C , CM000681.1:g.41928103T>C | GRCh37 |
| NC_000019.8:g.46619943T>C | NCBI36 |
| NG_013004.1:g.29410T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.681T>C MANE Select | ENSP00000269980.2:p.Asn227= | |
| ENST00000269980.6:c.681T>C | ENSP00000269980.2:p.Asn227= | |
| ENST00000457836.6:c.615T>C | ENSP00000416000.2:p.Asn205= | |
| ENST00000535632.5:n.310T>C | ||
| ENST00000538423.5:n.807T>C | ||
| ENST00000540732.3:c.783T>C | ENSP00000443246.1:p.Asn261= | |
| ENST00000541315.1:c.581T>C | ||
| ENST00000542943.5:c.594T>C | ENSP00000440345.1:p.Asn198= | |
| ENST00000545787.1:n.309T>C | ||
| ENST00000595085.5:c.681T>C | ENSP00000471150.2:p.Asn227= | |
| NM_000709.3:c.681T>C | NP_000700.1:p.Asn227= | |
| NM_001164783.1:c.681T>C | NP_001158255.1:p.Asn227= | |
| NM_000709.4:c.681T>C MANE Select | NP_000700.1:p.Asn227= | |
| NM_001164783.2:c.681T>C | NP_001158255.1:p.Asn227= |