Linked Data
dbSNP Id:
rs748382347
ExAC:
19:41928174 A / G
gnomAD v2:
19-41928174-A-G
gnomAD v4:
19-41422269-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422269A>G , CM000681.2:g.41422269A>G | GRCh38 |
| NC_000019.9:g.41928174A>G , CM000681.1:g.41928174A>G | GRCh37 |
| NC_000019.8:g.46620014A>G | NCBI36 |
| NG_013004.1:g.29481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.752A>G MANE Select | ENSP00000269980.2:p.Asn251Ser | |
| ENST00000269980.6:c.752A>G | ENSP00000269980.2:p.Asn251Ser | |
| ENST00000457836.6:c.686A>G | ENSP00000416000.2:p.Asn229Ser | |
| ENST00000535632.5:n.381A>G | ||
| ENST00000540732.3:c.854A>G | ENSP00000443246.1:p.Asn285Ser | |
| ENST00000542943.5:c.665A>G | ENSP00000440345.1:p.Asn222Ser | |
| ENST00000545787.1:n.380A>G | ||
| ENST00000595085.5:c.752A>G | ENSP00000471150.2:p.Asn251Ser | |
| NM_000709.3:c.752A>G | NP_000700.1:p.Asn251Ser | |
| NM_001164783.1:c.752A>G | NP_001158255.1:p.Asn251Ser | |
| NM_000709.4:c.752A>G MANE Select | NP_000700.1:p.Asn251Ser | |
| NM_001164783.2:c.752A>G | NP_001158255.1:p.Asn251Ser |