Linked Data
ClinVar Variation Id:
21779
dbSNP Id:
rs1801475
ExAC:
20:62038277 T / G
gnomAD v2:
20-62038277-T-G
gnomAD v3:
20-63406924-T-G
gnomAD v4:
20-63406924-T-G
PubMed:
PMID:20437616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406924T>G , CM000682.2:g.63406924T>G | GRCh38 |
| NC_000020.10:g.62038277T>G , CM000682.1:g.62038277T>G | GRCh37 |
| NC_000020.9:g.61508721T>G | NCBI36 |
| NG_009004.1:g.70717A>C | |
| NG_009004.2:g.70717A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706989.1:c.2393A>C | ENSP00000516702.1:p.Asn798Thr | |
| ENST00000359125.7:c.2339A>C MANE Select | ENSP00000352035.2:p.Asn780Thr | |
| ENST00000637193.1:c.1736A>C | ENSP00000490734.1:p.Asn579Thr | |
| ENST00000344462.8:c.2246A>C | ENSP00000339611.4:p.Asn749Thr | |
| ENST00000357249.6:c.1907A>C | ENSP00000349789.3:p.Asn636Thr | |
| ENST00000359125.6:c.2339A>C | ENSP00000352035.2:p.Asn780Thr | |
| ENST00000360480.7:c.2255A>C | ENSP00000353668.3:p.Asn752Thr | |
| ENST00000370224.5:c.2241+122A>C | ENSP00000359244.2:n.2241+122A>C | |
| ENST00000625514.2:c.2205+122A>C | ENSP00000486040.1:n.2205+122A>C | |
| ENST00000626839.2:c.2285A>C | ENSP00000486706.1:p.Asn762Thr | |
| ENST00000629241.2:c.2133+122A>C | ENSP00000487142.1:n.2133+122A>C | |
| ENST00000629676.2:c.1680-6081A>C | ENSP00000486194.1:n.1680-6081A>C | |
| NM_004518.4:c.2255A>C | NP_004509.2:p.Asn752Thr | |
| NM_172106.1:c.2285A>C | NP_742104.1:p.Asn762Thr | |
| NM_172107.2:c.2339A>C | NP_742105.1:p.Asn780Thr | |
| NM_172108.3:c.2246A>C | NP_742106.1:p.Asn749Thr | |
| XM_006723787.1:c.2381A>C | XP_006723850.1:p.Asn794Thr | |
| XM_011528807.1:c.2447A>C | XP_011527109.1:p.Asn816Thr | |
| XM_011528808.1:c.2444A>C | XP_011527110.1:p.Asn815Thr | |
| XM_011528809.1:c.2417A>C | XP_011527111.1:p.Asn806Thr | |
| XM_011528810.1:c.2393A>C | XP_011527112.1:p.Asn798Thr | |
| XM_011528811.1:c.2363A>C | XP_011527113.1:p.Asn788Thr | |
| XM_011528812.1:c.2336A>C | XP_011527114.1:p.Asn779Thr | |
| XM_011528813.1:c.2321A>C | XP_011527115.1:p.Asn774Thr | |
| XM_011528814.1:c.1928A>C | XP_011527116.1:p.Asn643Thr | |
| NM_004518.5:c.2255A>C | NP_004509.2:p.Asn752Thr | |
| NM_172106.2:c.2285A>C | NP_742104.1:p.Asn762Thr | |
| NM_172107.3:c.2339A>C | NP_742105.1:p.Asn780Thr | |
| NM_172108.4:c.2246A>C | NP_742106.1:p.Asn749Thr | |
| XM_011528810.2:c.2393A>C | XP_011527112.1:p.Asn798Thr | |
| XM_011528811.2:c.2363A>C | XP_011527113.1:p.Asn788Thr | |
| XM_017027841.2:c.2390A>C | XP_016883330.1:p.Asn797Thr | |
| XM_017027842.2:c.2327A>C | XP_016883331.1:p.Asn776Thr | |
| XM_017027843.1:c.2324A>C | XP_016883332.1:p.Asn775Thr | |
| XM_017027844.2:c.2282A>C | XP_016883333.1:p.Asn761Thr | |
| XM_017027845.1:c.1355A>C | XP_016883334.1:p.Asn452Thr | |
| NM_004518.6:c.2255A>C | NP_004509.2:p.Asn752Thr | |
| NM_172106.3:c.2285A>C | NP_742104.1:p.Asn762Thr | |
| NM_172107.4:c.2339A>C MANE Select | NP_742105.1:p.Asn780Thr | |
| NM_172108.5:c.2246A>C | NP_742106.1:p.Asn749Thr | |
| NM_001382235.1:c.2393A>C | NP_001369164.1:p.Asn798Thr |