Linked Data
dbSNP Id:
rs754284552
ExAC:
19:41928875 T / C
gnomAD v2:
19-41928875-T-C
gnomAD v4:
19-41422970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422970T>C , CM000681.2:g.41422970T>C | GRCh38 |
| NC_000019.9:g.41928875T>C , CM000681.1:g.41928875T>C | GRCh37 |
| NC_000019.8:g.46620715T>C | NCBI36 |
| NG_013004.1:g.30182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-28T>C MANE Select | ENSP00000269980.2:n.996-28T>C | |
| ENST00000269980.6:c.996-28T>C | ENSP00000269980.2:n.996-28T>C | |
| ENST00000457836.6:c.977T>C | ENSP00000416000.2:p.Leu326Pro | |
| ENST00000540732.3:c.1098-28T>C | ENSP00000443246.1:n.1098-28T>C | |
| ENST00000542943.5:c.909-28T>C | ENSP00000440345.1:n.909-28T>C | |
| ENST00000595085.5:c.922+273T>C | ENSP00000471150.2:n.922+273T>C | |
| NM_000709.3:c.996-28T>C | NP_000700.1:n.996-28T>C | |
| NM_001164783.1:c.993-28T>C | NP_001158255.1:n.993-28T>C | |
| NM_000709.4:c.996-28T>C MANE Select | NP_000700.1:n.996-28T>C | |
| NM_001164783.2:c.993-28T>C | NP_001158255.1:n.993-28T>C |