Linked Data
dbSNP Id:
rs1230653529
gnomAD v3:
1-23808069-A-G
gnomAD v4:
1-23808069-A-G
MyVariant Identifiers:
chr1:g.24134559A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23808069A>G , CM000663.2:g.23808069A>G | GRCh38 |
| NC_000001.10:g.24134559A>G , CM000663.1:g.24134559A>G | GRCh37 |
| NC_000001.9:g.24007146A>G | NCBI36 |
| NG_013061.1:g.22391T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.750+66T>C MANE Select | ENSP00000363614.3:n.750+66T>C | |
| ENST00000235958.4:c.320+66T>C | ||
| ENST00000374487.6:c.*791+66T>C | ENSP00000363611.2:n.*791+66T>C | |
| ENST00000374490.7:c.750+66T>C | ENSP00000363614.3:n.750+66T>C | |
| ENST00000436439.6:c.537+66T>C | ENSP00000389281.2:n.537+66T>C | |
| ENST00000496907.1:n.385+66T>C | ||
| ENST00000509389.5:n.441+66T>C | ||
| NM_000191.2:c.750+66T>C | NP_000182.2:n.750+66T>C | |
| NM_001166059.1:c.537+66T>C | NP_001159531.1:n.537+66T>C | |
| NM_000191.3:c.750+66T>C MANE Select | NP_000182.2:n.750+66T>C | |
| NM_001166059.2:c.537+66T>C | NP_001159531.1:n.537+66T>C |