Linked Data
dbSNP Id:
rs771017948
ExAC:
19:41916794 A / C
gnomAD v2:
19-41916794-A-C
gnomAD v4:
19-41410889-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410889A>C , CM000681.2:g.41410889A>C | GRCh38 |
| NC_000019.9:g.41916794A>C , CM000681.1:g.41916794A>C | GRCh37 |
| NC_000019.8:g.46608634A>C | NCBI36 |
| NG_013004.1:g.18101A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.289-34A>C MANE Select | ENSP00000269980.2:n.289-34A>C | |
| ENST00000269980.6:c.289-34A>C | ENSP00000269980.2:n.289-34A>C | |
| ENST00000457836.6:c.223-34A>C | ENSP00000416000.2:n.223-34A>C | |
| ENST00000538423.5:n.381A>C | ||
| ENST00000540732.3:c.391-34A>C | ENSP00000443246.1:n.391-34A>C | |
| ENST00000541315.1:c.96-34A>C | ||
| ENST00000542943.5:c.288+73A>C | ENSP00000440345.1:n.288+73A>C | |
| ENST00000595085.5:c.289-34A>C | ENSP00000471150.2:n.289-34A>C | |
| NM_000709.3:c.289-34A>C | NP_000700.1:n.289-34A>C | |
| NM_001164783.1:c.289-34A>C | NP_001158255.1:n.289-34A>C | |
| NM_000709.4:c.289-34A>C MANE Select | NP_000700.1:n.289-34A>C | |
| NM_001164783.2:c.289-34A>C | NP_001158255.1:n.289-34A>C |