Linked Data
dbSNP Id:
rs10519613
gnomAD v2:
4-142654084-C-A
gnomAD v3:
4-141732931-C-A
gnomAD v4:
4-141732931-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141732931C>A , CM000666.2:g.141732931C>A | GRCh38 |
| NC_000004.11:g.142654084C>A , CM000666.1:g.142654084C>A | GRCh37 |
| NC_000004.10:g.142873534C>A | NCBI36 |
| NG_029605.1:g.101336C>A | |
| NG_029605.2:g.101336C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320650.9:c.*83C>A MANE Select | ENSP00000323505.4:n.*83C>A | |
| ENST00000296545.11:c.*83C>A | ENSP00000296545.7:n.*83C>A | |
| ENST00000320650.8:c.*83C>A | ENSP00000323505.4:n.*83C>A | |
| ENST00000394159.2:c.491C>A | ENSP00000377714.1:n.491C>A | |
| ENST00000477265.5:c.*83C>A | ENSP00000436914.1:n.*83C>A | |
| ENST00000514653.5:c.*83C>A | ENSP00000422271.1:n.*83C>A | |
| ENST00000529613.5:c.*83C>A | ENSP00000435462.1:n.*83C>A | |
| NM_000585.4:c.*83C>A | NP_000576.1:n.*83C>A | |
| NM_172175.2:c.*83C>A | NP_751915.1:n.*83C>A | |
| NR_037840.2:n.1422C>A | ||
| NM_000585.5:c.*83C>A MANE Select | NP_000576.1:n.*83C>A | |
| NM_172175.3:c.*83C>A | NP_751915.1:n.*83C>A | |
| NR_037840.3:n.1435C>A |