Linked Data
dbSNP Id:
rs764357679
ExAC:
19:41928871 A / C
gnomAD v2:
19-41928871-A-C
gnomAD v4:
19-41422966-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422966A>C , CM000681.2:g.41422966A>C | GRCh38 |
| NC_000019.9:g.41928871A>C , CM000681.1:g.41928871A>C | GRCh37 |
| NC_000019.8:g.46620711A>C | NCBI36 |
| NG_013004.1:g.30178A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-32A>C MANE Select | ENSP00000269980.2:n.996-32A>C | |
| ENST00000269980.6:c.996-32A>C | ENSP00000269980.2:n.996-32A>C | |
| ENST00000457836.6:c.973A>C | ENSP00000416000.2:p.Thr325Pro | |
| ENST00000540732.3:c.1098-32A>C | ENSP00000443246.1:n.1098-32A>C | |
| ENST00000542943.5:c.909-32A>C | ENSP00000440345.1:n.909-32A>C | |
| ENST00000595085.5:c.922+269A>C | ENSP00000471150.2:n.922+269A>C | |
| NM_000709.3:c.996-32A>C | NP_000700.1:n.996-32A>C | |
| NM_001164783.1:c.993-32A>C | NP_001158255.1:n.993-32A>C | |
| NM_000709.4:c.996-32A>C MANE Select | NP_000700.1:n.996-32A>C | |
| NM_001164783.2:c.993-32A>C | NP_001158255.1:n.993-32A>C |