Linked Data
ClinVar Variation Id:
2904264
ClinVar RCV Id:
RCV003764320
dbSNP Id:
rs760703064
ExAC:
5:151202355 T / G
gnomAD v2:
5-151202355-T-G
gnomAD v3:
5-151822794-T-G
gnomAD v4:
5-151822794-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822794T>G , CM000667.2:g.151822794T>G | GRCh38 |
| NC_000005.9:g.151202355T>G , CM000667.1:g.151202355T>G | GRCh37 |
| NC_000005.8:g.151182548T>G | NCBI36 |
| NG_011764.1:g.107043A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1229A>C MANE Select | ENSP00000274576.5:p.Gln410Pro | |
| ENST00000274576.8:c.1229A>C | ENSP00000274576.4:p.Gln410Pro | |
| ENST00000455880.2:c.1253A>C | ENSP00000411593.2:p.Gln418Pro | |
| ENST00000462581.6:c.*987A>C | ENSP00000430595.1:n.*987A>C | |
| NM_000171.3:c.1229A>C | NP_000162.2:p.Gln410Pro | |
| NM_001146040.1:c.1253A>C | NP_001139512.1:p.Gln418Pro | |
| NM_001292000.1:c.980A>C | NP_001278929.1:p.Gln327Pro | |
| NM_000171.4:c.1229A>C MANE Select | NP_000162.2:p.Gln410Pro | |
| NM_001146040.2:c.1253A>C | NP_001139512.1:p.Gln418Pro | |
| NM_001292000.2:c.980A>C | NP_001278929.1:p.Gln327Pro |