Linked Data
dbSNP Id:
rs779431245
gnomAD v4:
5-151822913-G-T
MyVariant Identifiers:
chr5:g.151202474G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822913G>T , CM000667.2:g.151822913G>T | GRCh38 |
| NC_000005.9:g.151202474G>T , CM000667.1:g.151202474G>T | GRCh37 |
| NC_000005.8:g.151182667G>T | NCBI36 |
| NG_011764.1:g.106924C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1110C>A MANE Select | ENSP00000274576.5:p.Gly370= | |
| ENST00000274576.8:c.1110C>A | ENSP00000274576.4:p.Gly370= | |
| ENST00000455880.2:c.1134C>A | ENSP00000411593.2:p.Gly378= | |
| ENST00000462581.6:c.*868C>A | ENSP00000430595.1:n.*868C>A | |
| NM_000171.3:c.1110C>A | NP_000162.2:p.Gly370= | |
| NM_001146040.1:c.1134C>A | NP_001139512.1:p.Gly378= | |
| NM_001292000.1:c.861C>A | NP_001278929.1:p.Gly287= | |
| NM_000171.4:c.1110C>A MANE Select | NP_000162.2:p.Gly370= | |
| NM_001146040.2:c.1134C>A | NP_001139512.1:p.Gly378= | |
| NM_001292000.2:c.861C>A | NP_001278929.1:p.Gly287= |