Linked Data
dbSNP Id:
rs76583569
gnomAD v2:
19-33532309-G-A
gnomAD v3:
19-33041403-G-A
gnomAD v4:
19-33041403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33041403G>A , CM000681.2:g.33041403G>A | GRCh38 |
| NC_000019.9:g.33532309G>A , CM000681.1:g.33532309G>A | GRCh37 |
| NC_000019.8:g.38224149G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254260.8:c.185+2846C>T MANE Select | ENSP00000254260.2:n.185+2846C>T | |
| ENST00000254260.7:c.185+2846C>T | ENSP00000254260.2:n.185+2846C>T | |
| ENST00000588388.5:c.185+2846C>T | ENSP00000465898.1:n.185+2846C>T | |
| NM_033103.4:c.185+2846C>T | NP_149094.3:n.185+2846C>T | |
| NM_033103.5:c.185+2846C>T MANE Select | NP_149094.3:n.185+2846C>T |