Linked Data
dbSNP Id:
rs587780367
ExAC:
20:62038300 C / G
gnomAD v2:
20-62038300-C-G
gnomAD v4:
20-63406947-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406947C>G , CM000682.2:g.63406947C>G | GRCh38 |
| NC_000020.10:g.62038300C>G , CM000682.1:g.62038300C>G | GRCh37 |
| NC_000020.9:g.61508744C>G | NCBI36 |
| NG_009004.1:g.70694G>C | |
| NG_009004.2:g.70694G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2370G>C | ENSP00000516702.1:p.Pro790= | |
| ENST00000359125.7:c.2316G>C MANE Select | ENSP00000352035.2:p.Pro772= | |
| ENST00000637193.1:c.1713G>C | ENSP00000490734.1:p.Pro571= | |
| ENST00000344462.8:c.2223G>C | ENSP00000339611.4:p.Pro741= | |
| ENST00000357249.6:c.1884G>C | ENSP00000349789.3:p.Pro628= | |
| ENST00000359125.6:c.2316G>C | ENSP00000352035.2:p.Pro772= | |
| ENST00000360480.7:c.2232G>C | ENSP00000353668.3:p.Pro744= | |
| ENST00000370224.5:c.2241+99G>C | ENSP00000359244.2:n.2241+99G>C | |
| ENST00000625514.2:c.2205+99G>C | ENSP00000486040.1:n.2205+99G>C | |
| ENST00000626839.2:c.2262G>C | ENSP00000486706.1:p.Pro754= | |
| ENST00000629241.2:c.2133+99G>C | ENSP00000487142.1:n.2133+99G>C | |
| ENST00000629676.2:c.1680-6104G>C | ENSP00000486194.1:n.1680-6104G>C | |
| NM_004518.4:c.2232G>C | NP_004509.2:p.Pro744= | |
| NM_172106.1:c.2262G>C | NP_742104.1:p.Pro754= | |
| NM_172107.2:c.2316G>C | NP_742105.1:p.Pro772= | |
| NM_172108.3:c.2223G>C | NP_742106.1:p.Pro741= | |
| XM_006723787.1:c.2358G>C | XP_006723850.1:p.Pro786= | |
| XM_011528807.1:c.2424G>C | XP_011527109.1:p.Pro808= | |
| XM_011528808.1:c.2421G>C | XP_011527110.1:p.Pro807= | |
| XM_011528809.1:c.2394G>C | XP_011527111.1:p.Pro798= | |
| XM_011528810.1:c.2370G>C | XP_011527112.1:p.Pro790= | |
| XM_011528811.1:c.2340G>C | XP_011527113.1:p.Pro780= | |
| XM_011528812.1:c.2313G>C | XP_011527114.1:p.Pro771= | |
| XM_011528813.1:c.2298G>C | XP_011527115.1:p.Pro766= | |
| XM_011528814.1:c.1905G>C | XP_011527116.1:p.Pro635= | |
| NM_004518.5:c.2232G>C | NP_004509.2:p.Pro744= | |
| NM_172106.2:c.2262G>C | NP_742104.1:p.Pro754= | |
| NM_172107.3:c.2316G>C | NP_742105.1:p.Pro772= | |
| NM_172108.4:c.2223G>C | NP_742106.1:p.Pro741= | |
| XM_011528810.2:c.2370G>C | XP_011527112.1:p.Pro790= | |
| XM_011528811.2:c.2340G>C | XP_011527113.1:p.Pro780= | |
| XM_017027841.2:c.2367G>C | XP_016883330.1:p.Pro789= | |
| XM_017027842.2:c.2304G>C | XP_016883331.1:p.Pro768= | |
| XM_017027843.1:c.2301G>C | XP_016883332.1:p.Pro767= | |
| XM_017027844.2:c.2259G>C | XP_016883333.1:p.Pro753= | |
| XM_017027845.1:c.1332G>C | XP_016883334.1:p.Pro444= | |
| NM_004518.6:c.2232G>C | NP_004509.2:p.Pro744= | |
| NM_172106.3:c.2262G>C | NP_742104.1:p.Pro754= | |
| NM_172107.4:c.2316G>C MANE Select | NP_742105.1:p.Pro772= | |
| NM_172108.5:c.2223G>C | NP_742106.1:p.Pro741= | |
| NM_001382235.1:c.2370G>C | NP_001369164.1:p.Pro790= |