Linked Data
dbSNP Id:
rs5758596
gnomAD v2:
22-42538411-C-T
gnomAD v3:
22-42142401-C-T
gnomAD v4:
22-42142401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42142401C>T , CM000684.2:g.42142401C>T | GRCh38 |
| NC_000022.10:g.42538411C>T , CM000684.1:g.42538411C>T | GRCh37 |
| NC_000022.9:g.40868355C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651010.1:n.2620+78G>A | ||
| ENST00000358097.8:c.667+78G>A | ENSP00000445124.1:n.667+78G>A | |
| ENST00000433992.2:c.667+78G>A | ENSP00000439604.1:n.667+78G>A | |
| ENST00000610593.4:n.752+78G>A | ||
| ENST00000612115.1:c.666+78G>A | ENSP00000484065.1:n.666+78G>A | |
| ENST00000614967.4:c.513+78G>A | ENSP00000481168.1:n.513+78G>A | |
| NR_002570.3:n.778+78G>A | ||
| NM_001348386.2:c.666+78G>A | NP_001335315.1:n.666+78G>A | |
| NR_002570.5:n.686+78G>A | ||
| NR_145674.2:n.686+78G>A | ||
| NM_001348386.3:c.666+78G>A | NP_001335315.1:n.666+78G>A | |
| NR_002570.6:n.686+78G>A | ||
| NR_145674.3:n.686+78G>A |