Linked Data
dbSNP Id:
rs564056573
ExAC:
11:1908785 G / C
gnomAD v2:
11-1908785-G-C
gnomAD v3:
11-1887555-G-C
gnomAD v4:
11-1887555-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1887555G>C , CM000673.2:g.1887555G>C | GRCh38 |
| NC_000011.9:g.1908785G>C , CM000673.1:g.1908785G>C | GRCh37 |
| NC_000011.8:g.1865361G>C | NCBI36 |
| NG_011509.1:g.39586G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311604.8:c.1012G>C MANE Select | ENSP00000308383.4:p.Ala338Pro | |
| ENST00000311604.7:c.1012G>C | ENSP00000308383.3:p.Ala338Pro | |
| ENST00000381775.5:c.1396G>C | ENSP00000371194.1:p.Ala466Pro | |
| ENST00000405957.6:c.826G>C | ENSP00000383932.2:p.Ala276Pro | |
| ENST00000406638.6:c.826G>C | ENSP00000384022.2:p.Ala276Pro | |
| ENST00000472974.5:n.882G>C | ||
| ENST00000485341.5:n.1508G>C | ||
| ENST00000612798.4:c.826G>C | ENSP00000484140.1:p.Ala276Pro | |
| NM_001013253.1:c.826G>C | NP_001013271.1:p.Ala276Pro | |
| NM_001013254.1:c.826G>C | NP_001013272.1:p.Ala276Pro | |
| NM_001013255.1:c.826G>C | NP_001013273.1:p.Ala276Pro | |
| NM_001242932.1:c.1396G>C | NP_001229861.1:p.Ala466Pro | |
| NM_001289005.1:c.826G>C | NP_001275934.1:p.Ala276Pro | |
| NM_002339.2:c.1012G>C | NP_002330.1:p.Ala338Pro | |
| NM_001013253.2:c.826G>C | NP_001013271.1:p.Ala276Pro | |
| NM_002339.3:c.1012G>C MANE Select | NP_002330.1:p.Ala338Pro | |
| NM_001242932.2:c.1396G>C | NP_001229861.1:p.Ala466Pro | |
| NM_001289005.2:c.826G>C | NP_001275934.1:p.Ala276Pro |