Linked Data
dbSNP Id:
rs1467331597
gnomAD v2:
20-62038479-G-C
gnomAD v3:
20-63407126-G-C
gnomAD v4:
20-63407126-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407126G>C , CM000682.2:g.63407126G>C | GRCh38 |
| NC_000020.10:g.62038479G>C , CM000682.1:g.62038479G>C | GRCh37 |
| NC_000020.9:g.61508923G>C | NCBI36 |
| NG_009004.1:g.70515C>G | |
| NG_009004.2:g.70515C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2191C>G | ENSP00000516702.1:p.Pro731Ala | |
| ENST00000359125.7:c.2137C>G MANE Select | ENSP00000352035.2:p.Pro713Ala | |
| ENST00000637193.1:c.1534C>G | ENSP00000490734.1:p.Pro512Ala | |
| ENST00000344462.8:c.2044C>G | ENSP00000339611.4:p.Pro682Ala | |
| ENST00000357249.6:c.1705C>G | ENSP00000349789.3:p.Pro569Ala | |
| ENST00000359125.6:c.2137C>G | ENSP00000352035.2:p.Pro713Ala | |
| ENST00000360480.7:c.2053C>G | ENSP00000353668.3:p.Pro685Ala | |
| ENST00000370224.5:c.2161C>G | ENSP00000359244.2:p.Pro721Ala | |
| ENST00000625514.2:c.2125C>G | ENSP00000486040.1:p.Pro709Ala | |
| ENST00000626839.2:c.2083C>G | ENSP00000486706.1:p.Pro695Ala | |
| ENST00000629241.2:c.2053C>G | ENSP00000487142.1:p.Pro685Ala | |
| ENST00000629676.2:c.1680-6283C>G | ENSP00000486194.1:n.1680-6283C>G | |
| NM_004518.4:c.2053C>G | NP_004509.2:p.Pro685Ala | |
| NM_172106.1:c.2083C>G | NP_742104.1:p.Pro695Ala | |
| NM_172107.2:c.2137C>G | NP_742105.1:p.Pro713Ala | |
| NM_172108.3:c.2044C>G | NP_742106.1:p.Pro682Ala | |
| XM_006723787.1:c.2179C>G | XP_006723850.1:p.Pro727Ala | |
| XM_011528807.1:c.2245C>G | XP_011527109.1:p.Pro749Ala | |
| XM_011528808.1:c.2242C>G | XP_011527110.1:p.Pro748Ala | |
| XM_011528809.1:c.2215C>G | XP_011527111.1:p.Pro739Ala | |
| XM_011528810.1:c.2191C>G | XP_011527112.1:p.Pro731Ala | |
| XM_011528811.1:c.2161C>G | XP_011527113.1:p.Pro721Ala | |
| XM_011528812.1:c.2134C>G | XP_011527114.1:p.Pro712Ala | |
| XM_011528813.1:c.2119C>G | XP_011527115.1:p.Pro707Ala | |
| XM_011528814.1:c.1726C>G | XP_011527116.1:p.Pro576Ala | |
| NM_004518.5:c.2053C>G | NP_004509.2:p.Pro685Ala | |
| NM_172106.2:c.2083C>G | NP_742104.1:p.Pro695Ala | |
| NM_172107.3:c.2137C>G | NP_742105.1:p.Pro713Ala | |
| NM_172108.4:c.2044C>G | NP_742106.1:p.Pro682Ala | |
| XM_011528810.2:c.2191C>G | XP_011527112.1:p.Pro731Ala | |
| XM_011528811.2:c.2161C>G | XP_011527113.1:p.Pro721Ala | |
| XM_017027841.2:c.2188C>G | XP_016883330.1:p.Pro730Ala | |
| XM_017027842.2:c.2125C>G | XP_016883331.1:p.Pro709Ala | |
| XM_017027843.1:c.2122C>G | XP_016883332.1:p.Pro708Ala | |
| XM_017027844.2:c.2080C>G | XP_016883333.1:p.Pro694Ala | |
| XM_017027845.1:c.1153C>G | XP_016883334.1:p.Pro385Ala | |
| NM_004518.6:c.2053C>G | NP_004509.2:p.Pro685Ala | |
| NM_172106.3:c.2083C>G | NP_742104.1:p.Pro695Ala | |
| NM_172107.4:c.2137C>G MANE Select | NP_742105.1:p.Pro713Ala | |
| NM_172108.5:c.2044C>G | NP_742106.1:p.Pro682Ala | |
| NM_001382235.1:c.2191C>G | NP_001369164.1:p.Pro731Ala |