Linked Data
dbSNP Id:
rs565272857
ExAC:
19:41928862 A / G
gnomAD v2:
19-41928862-A-G
gnomAD v3:
19-41422957-A-G
gnomAD v4:
19-41422957-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422957A>G , CM000681.2:g.41422957A>G | GRCh38 |
| NC_000019.9:g.41928862A>G , CM000681.1:g.41928862A>G | GRCh37 |
| NC_000019.8:g.46620702A>G | NCBI36 |
| NG_013004.1:g.30169A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-41A>G MANE Select | ENSP00000269980.2:n.996-41A>G | |
| ENST00000269980.6:c.996-41A>G | ENSP00000269980.2:n.996-41A>G | |
| ENST00000457836.6:c.964A>G | ENSP00000416000.2:p.Arg322Gly | |
| ENST00000540732.3:c.1098-41A>G | ENSP00000443246.1:n.1098-41A>G | |
| ENST00000542943.5:c.909-41A>G | ENSP00000440345.1:n.909-41A>G | |
| ENST00000595085.5:c.922+260A>G | ENSP00000471150.2:n.922+260A>G | |
| NM_000709.3:c.996-41A>G | NP_000700.1:n.996-41A>G | |
| NM_001164783.1:c.993-41A>G | NP_001158255.1:n.993-41A>G | |
| NM_000709.4:c.996-41A>G MANE Select | NP_000700.1:n.996-41A>G | |
| NM_001164783.2:c.993-41A>G | NP_001158255.1:n.993-41A>G |