Linked Data
dbSNP Id:
rs1490910099
gnomAD v2:
19-41928697-A-C
gnomAD v3:
19-41422792-A-C
gnomAD v4:
19-41422792-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422792A>C , CM000681.2:g.41422792A>C | GRCh38 |
| NC_000019.9:g.41928697A>C , CM000681.1:g.41928697A>C | GRCh37 |
| NC_000019.8:g.46620537A>C | NCBI36 |
| NG_013004.1:g.30004A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.995+22A>C MANE Select | ENSP00000269980.2:n.995+22A>C | |
| ENST00000269980.6:c.995+22A>C | ENSP00000269980.2:n.995+22A>C | |
| ENST00000457836.6:c.929+22A>C | ENSP00000416000.2:n.929+22A>C | |
| ENST00000540732.3:c.1097+22A>C | ENSP00000443246.1:n.1097+22A>C | |
| ENST00000542943.5:c.908+22A>C | ENSP00000440345.1:n.908+22A>C | |
| ENST00000595085.5:c.922+95A>C | ENSP00000471150.2:n.922+95A>C | |
| NM_000709.3:c.995+22A>C | NP_000700.1:n.995+22A>C | |
| NM_001164783.1:c.992+22A>C | NP_001158255.1:n.992+22A>C | |
| NM_000709.4:c.995+22A>C MANE Select | NP_000700.1:n.995+22A>C | |
| NM_001164783.2:c.992+22A>C | NP_001158255.1:n.992+22A>C |