Linked Data
dbSNP Id:
rs774519917
ExAC:
19:41928107 A / T
gnomAD v2:
19-41928107-A-T
gnomAD v4:
19-41422202-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422202A>T , CM000681.2:g.41422202A>T | GRCh38 |
| NC_000019.9:g.41928107A>T , CM000681.1:g.41928107A>T | GRCh37 |
| NC_000019.8:g.46619947A>T | NCBI36 |
| NG_013004.1:g.29414A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.685A>T MANE Select | ENSP00000269980.2:p.Asn229Tyr | |
| ENST00000269980.6:c.685A>T | ENSP00000269980.2:p.Asn229Tyr | |
| ENST00000457836.6:c.619A>T | ENSP00000416000.2:p.Asn207Tyr | |
| ENST00000535632.5:n.314A>T | ||
| ENST00000538423.5:n.811A>T | ||
| ENST00000540732.3:c.787A>T | ENSP00000443246.1:p.Asn263Tyr | |
| ENST00000541315.1:c.585A>T | ||
| ENST00000542943.5:c.598A>T | ENSP00000440345.1:p.Asn200Tyr | |
| ENST00000545787.1:n.313A>T | ||
| ENST00000595085.5:c.685A>T | ENSP00000471150.2:p.Asn229Tyr | |
| NM_000709.3:c.685A>T | NP_000700.1:p.Asn229Tyr | |
| NM_001164783.1:c.685A>T | NP_001158255.1:p.Asn229Tyr | |
| NM_000709.4:c.685A>T MANE Select | NP_000700.1:p.Asn229Tyr | |
| NM_001164783.2:c.685A>T | NP_001158255.1:p.Asn229Tyr |