Linked Data
dbSNP Id:
rs973895006
gnomAD v2:
5-151208684-T-C
gnomAD v3:
5-151829123-T-C
gnomAD v4:
5-151829123-T-C
MyVariant Identifiers:
chr5:g.151829123T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829123T>C , CM000667.2:g.151829123T>C | GRCh38 |
| NC_000005.9:g.151208684T>C , CM000667.1:g.151208684T>C | GRCh37 |
| NC_000005.8:g.151188877T>C | NCBI36 |
| NG_011764.1:g.100714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.913-56A>G MANE Select | ENSP00000274576.5:n.913-56A>G | |
| ENST00000274576.8:c.913-56A>G | ENSP00000274576.4:n.913-56A>G | |
| ENST00000455880.2:c.913-56A>G | ENSP00000411593.2:n.913-56A>G | |
| ENST00000462581.6:c.*671-56A>G | ENSP00000430595.1:n.*671-56A>G | |
| NM_000171.3:c.913-56A>G | NP_000162.2:n.913-56A>G | |
| NM_001146040.1:c.913-56A>G | NP_001139512.1:n.913-56A>G | |
| NM_001292000.1:c.664-56A>G | NP_001278929.1:n.664-56A>G | |
| NM_000171.4:c.913-56A>G MANE Select | NP_000162.2:n.913-56A>G | |
| NM_001146040.2:c.913-56A>G | NP_001139512.1:n.913-56A>G | |
| NM_001292000.2:c.664-56A>G | NP_001278929.1:n.664-56A>G |