Linked Data
ClinVar Variation Id:
461418
dbSNP Id:
rs749958721
ExAC:
20:62038243 C / T
gnomAD v2:
20-62038243-C-T
gnomAD v3:
20-63406890-C-T
gnomAD v4:
20-63406890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406890C>T , CM000682.2:g.63406890C>T | GRCh38 |
| NC_000020.10:g.62038243C>T , CM000682.1:g.62038243C>T | GRCh37 |
| NC_000020.9:g.61508687C>T | NCBI36 |
| NG_009004.1:g.70751G>A | |
| NG_009004.2:g.70751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2427G>A | ENSP00000516702.1:p.Pro809= | |
| ENST00000359125.7:c.2373G>A MANE Select | ENSP00000352035.2:p.Pro791= | |
| ENST00000637193.1:c.1770G>A | ENSP00000490734.1:p.Pro590= | |
| ENST00000344462.8:c.2280G>A | ENSP00000339611.4:p.Pro760= | |
| ENST00000357249.6:c.1941G>A | ENSP00000349789.3:p.Pro647= | |
| ENST00000359125.6:c.2373G>A | ENSP00000352035.2:p.Pro791= | |
| ENST00000360480.7:c.2289G>A | ENSP00000353668.3:p.Pro763= | |
| ENST00000370224.5:c.2241+156G>A | ENSP00000359244.2:n.2241+156G>A | |
| ENST00000625514.2:c.2205+156G>A | ENSP00000486040.1:n.2205+156G>A | |
| ENST00000626839.2:c.2319G>A | ENSP00000486706.1:p.Pro773= | |
| ENST00000629241.2:c.2133+156G>A | ENSP00000487142.1:n.2133+156G>A | |
| ENST00000629676.2:c.1680-6047G>A | ENSP00000486194.1:n.1680-6047G>A | |
| NM_004518.4:c.2289G>A | NP_004509.2:p.Pro763= | |
| NM_172106.1:c.2319G>A | NP_742104.1:p.Pro773= | |
| NM_172107.2:c.2373G>A | NP_742105.1:p.Pro791= | |
| NM_172108.3:c.2280G>A | NP_742106.1:p.Pro760= | |
| XM_006723787.1:c.2415G>A | XP_006723850.1:p.Pro805= | |
| XM_011528807.1:c.2481G>A | XP_011527109.1:p.Pro827= | |
| XM_011528808.1:c.2478G>A | XP_011527110.1:p.Pro826= | |
| XM_011528809.1:c.2451G>A | XP_011527111.1:p.Pro817= | |
| XM_011528810.1:c.2427G>A | XP_011527112.1:p.Pro809= | |
| XM_011528811.1:c.2397G>A | XP_011527113.1:p.Pro799= | |
| XM_011528812.1:c.2370G>A | XP_011527114.1:p.Pro790= | |
| XM_011528813.1:c.2355G>A | XP_011527115.1:p.Pro785= | |
| XM_011528814.1:c.1962G>A | XP_011527116.1:p.Pro654= | |
| NM_004518.5:c.2289G>A | NP_004509.2:p.Pro763= | |
| NM_172106.2:c.2319G>A | NP_742104.1:p.Pro773= | |
| NM_172107.3:c.2373G>A | NP_742105.1:p.Pro791= | |
| NM_172108.4:c.2280G>A | NP_742106.1:p.Pro760= | |
| XM_011528810.2:c.2427G>A | XP_011527112.1:p.Pro809= | |
| XM_011528811.2:c.2397G>A | XP_011527113.1:p.Pro799= | |
| XM_017027841.2:c.2424G>A | XP_016883330.1:p.Pro808= | |
| XM_017027842.2:c.2361G>A | XP_016883331.1:p.Pro787= | |
| XM_017027843.1:c.2358G>A | XP_016883332.1:p.Pro786= | |
| XM_017027844.2:c.2316G>A | XP_016883333.1:p.Pro772= | |
| XM_017027845.1:c.1389G>A | XP_016883334.1:p.Pro463= | |
| NM_004518.6:c.2289G>A | NP_004509.2:p.Pro763= | |
| NM_172106.3:c.2319G>A | NP_742104.1:p.Pro773= | |
| NM_172107.4:c.2373G>A MANE Select | NP_742105.1:p.Pro791= | |
| NM_172108.5:c.2280G>A | NP_742106.1:p.Pro760= | |
| NM_001382235.1:c.2427G>A | NP_001369164.1:p.Pro809= |