Linked Data
dbSNP Id:
rs145078268
ExAC:
9:104187213 C / G
gnomAD v2:
9-104187213-C-G
gnomAD v3:
9-101424931-C-G
gnomAD v4:
9-101424931-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424931C>G , CM000671.2:g.101424931C>G | GRCh38 |
| NC_000009.11:g.104187213C>G , CM000671.1:g.104187213C>G | GRCh37 |
| NC_000009.10:g.103227034C>G | NCBI36 |
| NG_012387.1:g.15850G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.911G>C MANE Select | ENSP00000497767.1:p.Arg304Pro | |
| ENST00000648064.1:c.911G>C | ENSP00000497990.1:p.Arg304Pro | |
| ENST00000648758.1:c.911G>C | ENSP00000497731.1:p.Arg304Pro | |
| ENST00000649902.1:c.911G>C | ENSP00000497216.1:p.Arg304Pro | |
| ENST00000374855.8:c.911G>C | ENSP00000363988.4:p.Arg304Pro | |
| ENST00000616752.1:c.904+7G>C | ENSP00000481363.1:n.904+7G>C | |
| NM_000035.3:c.911G>C | NP_000026.2:p.Arg304Pro | |
| NM_000035.4:c.911G>C MANE Select | NP_000026.2:p.Arg304Pro |