Linked Data
dbSNP Id:
rs770358768
ExAC:
20:62038289 G / T
gnomAD v2:
20-62038289-G-T
gnomAD v3:
20-63406936-G-T
gnomAD v4:
20-63406936-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406936G>T , CM000682.2:g.63406936G>T | GRCh38 |
| NC_000020.10:g.62038289G>T , CM000682.1:g.62038289G>T | GRCh37 |
| NC_000020.9:g.61508733G>T | NCBI36 |
| NG_009004.1:g.70705C>A | |
| NG_009004.2:g.70705C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2381C>A | ENSP00000516702.1:p.Pro794His | |
| ENST00000359125.7:c.2327C>A MANE Select | ENSP00000352035.2:p.Pro776His | |
| ENST00000637193.1:c.1724C>A | ENSP00000490734.1:p.Pro575His | |
| ENST00000344462.8:c.2234C>A | ENSP00000339611.4:p.Pro745His | |
| ENST00000357249.6:c.1895C>A | ENSP00000349789.3:p.Pro632His | |
| ENST00000359125.6:c.2327C>A | ENSP00000352035.2:p.Pro776His | |
| ENST00000360480.7:c.2243C>A | ENSP00000353668.3:p.Pro748His | |
| ENST00000370224.5:c.2241+110C>A | ENSP00000359244.2:n.2241+110C>A | |
| ENST00000625514.2:c.2205+110C>A | ENSP00000486040.1:n.2205+110C>A | |
| ENST00000626839.2:c.2273C>A | ENSP00000486706.1:p.Pro758His | |
| ENST00000629241.2:c.2133+110C>A | ENSP00000487142.1:n.2133+110C>A | |
| ENST00000629676.2:c.1680-6093C>A | ENSP00000486194.1:n.1680-6093C>A | |
| NM_004518.4:c.2243C>A | NP_004509.2:p.Pro748His | |
| NM_172106.1:c.2273C>A | NP_742104.1:p.Pro758His | |
| NM_172107.2:c.2327C>A | NP_742105.1:p.Pro776His | |
| NM_172108.3:c.2234C>A | NP_742106.1:p.Pro745His | |
| XM_006723787.1:c.2369C>A | XP_006723850.1:p.Pro790His | |
| XM_011528807.1:c.2435C>A | XP_011527109.1:p.Pro812His | |
| XM_011528808.1:c.2432C>A | XP_011527110.1:p.Pro811His | |
| XM_011528809.1:c.2405C>A | XP_011527111.1:p.Pro802His | |
| XM_011528810.1:c.2381C>A | XP_011527112.1:p.Pro794His | |
| XM_011528811.1:c.2351C>A | XP_011527113.1:p.Pro784His | |
| XM_011528812.1:c.2324C>A | XP_011527114.1:p.Pro775His | |
| XM_011528813.1:c.2309C>A | XP_011527115.1:p.Pro770His | |
| XM_011528814.1:c.1916C>A | XP_011527116.1:p.Pro639His | |
| NM_004518.5:c.2243C>A | NP_004509.2:p.Pro748His | |
| NM_172106.2:c.2273C>A | NP_742104.1:p.Pro758His | |
| NM_172107.3:c.2327C>A | NP_742105.1:p.Pro776His | |
| NM_172108.4:c.2234C>A | NP_742106.1:p.Pro745His | |
| XM_011528810.2:c.2381C>A | XP_011527112.1:p.Pro794His | |
| XM_011528811.2:c.2351C>A | XP_011527113.1:p.Pro784His | |
| XM_017027841.2:c.2378C>A | XP_016883330.1:p.Pro793His | |
| XM_017027842.2:c.2315C>A | XP_016883331.1:p.Pro772His | |
| XM_017027843.1:c.2312C>A | XP_016883332.1:p.Pro771His | |
| XM_017027844.2:c.2270C>A | XP_016883333.1:p.Pro757His | |
| XM_017027845.1:c.1343C>A | XP_016883334.1:p.Pro448His | |
| NM_004518.6:c.2243C>A | NP_004509.2:p.Pro748His | |
| NM_172106.3:c.2273C>A | NP_742104.1:p.Pro758His | |
| NM_172107.4:c.2327C>A MANE Select | NP_742105.1:p.Pro776His | |
| NM_172108.5:c.2234C>A | NP_742106.1:p.Pro745His | |
| NM_001382235.1:c.2381C>A | NP_001369164.1:p.Pro794His |