Linked Data
dbSNP Id:
rs768088172
ExAC:
19:41928863 G / A
gnomAD v2:
19-41928863-G-A
gnomAD v4:
19-41422958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422958G>A , CM000681.2:g.41422958G>A | GRCh38 |
| NC_000019.9:g.41928863G>A , CM000681.1:g.41928863G>A | GRCh37 |
| NC_000019.8:g.46620703G>A | NCBI36 |
| NG_013004.1:g.30170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-40G>A MANE Select | ENSP00000269980.2:n.996-40G>A | |
| ENST00000269980.6:c.996-40G>A | ENSP00000269980.2:n.996-40G>A | |
| ENST00000457836.6:c.965G>A | ENSP00000416000.2:p.Arg322Lys | |
| ENST00000540732.3:c.1098-40G>A | ENSP00000443246.1:n.1098-40G>A | |
| ENST00000542943.5:c.909-40G>A | ENSP00000440345.1:n.909-40G>A | |
| ENST00000595085.5:c.922+261G>A | ENSP00000471150.2:n.922+261G>A | |
| NM_000709.3:c.996-40G>A | NP_000700.1:n.996-40G>A | |
| NM_001164783.1:c.993-40G>A | NP_001158255.1:n.993-40G>A | |
| NM_000709.4:c.996-40G>A MANE Select | NP_000700.1:n.996-40G>A | |
| NM_001164783.2:c.993-40G>A | NP_001158255.1:n.993-40G>A |