Linked Data
dbSNP Id:
rs538542793
ExAC:
11:1908711 C / T
gnomAD v2:
11-1908711-C-T
gnomAD v3:
11-1887481-C-T
gnomAD v4:
11-1887481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1887481C>T , CM000673.2:g.1887481C>T | GRCh38 |
| NC_000011.9:g.1908711C>T , CM000673.1:g.1908711C>T | GRCh37 |
| NC_000011.8:g.1865287C>T | NCBI36 |
| NG_011509.1:g.39512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311604.8:c.938C>T MANE Select | ENSP00000308383.4:p.Pro313Leu | |
| ENST00000311604.7:c.938C>T | ENSP00000308383.3:p.Pro313Leu | |
| ENST00000381775.5:c.1322C>T | ENSP00000371194.1:p.Pro441Leu | |
| ENST00000405957.6:c.752C>T | ENSP00000383932.2:p.Pro251Leu | |
| ENST00000406638.6:c.752C>T | ENSP00000384022.2:p.Pro251Leu | |
| ENST00000472974.5:n.808C>T | ||
| ENST00000484895.5:n.415C>T | ||
| ENST00000485341.5:n.1434C>T | ||
| ENST00000612798.4:c.752C>T | ENSP00000484140.1:p.Pro251Leu | |
| NM_001013253.1:c.752C>T | NP_001013271.1:p.Pro251Leu | |
| NM_001013254.1:c.752C>T | NP_001013272.1:p.Pro251Leu | |
| NM_001013255.1:c.752C>T | NP_001013273.1:p.Pro251Leu | |
| NM_001242932.1:c.1322C>T | NP_001229861.1:p.Pro441Leu | |
| NM_001289005.1:c.752C>T | NP_001275934.1:p.Pro251Leu | |
| NM_002339.2:c.938C>T | NP_002330.1:p.Pro313Leu | |
| NM_001013253.2:c.752C>T | NP_001013271.1:p.Pro251Leu | |
| NM_002339.3:c.938C>T MANE Select | NP_002330.1:p.Pro313Leu | |
| NM_001242932.2:c.1322C>T | NP_001229861.1:p.Pro441Leu | |
| NM_001289005.2:c.752C>T | NP_001275934.1:p.Pro251Leu |