Linked Data
ClinVar Variation Id:
1304987
ClinVar RCV Id:
RCV001765162
dbSNP Id:
rs2145483858
gnomAD v4:
20-63406894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406894A>G , CM000682.2:g.63406894A>G | GRCh38 |
| NC_000020.10:g.62038247A>G , CM000682.1:g.62038247A>G | GRCh37 |
| NC_000020.9:g.61508691A>G | NCBI36 |
| NG_009004.1:g.70747T>C | |
| NG_009004.2:g.70747T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2423T>C | ENSP00000516702.1:p.Ile808Thr | |
| ENST00000359125.7:c.2369T>C MANE Select | ENSP00000352035.2:p.Ile790Thr | |
| ENST00000637193.1:c.1766T>C | ENSP00000490734.1:p.Ile589Thr | |
| ENST00000344462.8:c.2276T>C | ENSP00000339611.4:p.Ile759Thr | |
| ENST00000357249.6:c.1937T>C | ENSP00000349789.3:p.Ile646Thr | |
| ENST00000359125.6:c.2369T>C | ENSP00000352035.2:p.Ile790Thr | |
| ENST00000360480.7:c.2285T>C | ENSP00000353668.3:p.Ile762Thr | |
| ENST00000370224.5:c.2241+152T>C | ENSP00000359244.2:n.2241+152T>C | |
| ENST00000625514.2:c.2205+152T>C | ENSP00000486040.1:n.2205+152T>C | |
| ENST00000626839.2:c.2315T>C | ENSP00000486706.1:p.Ile772Thr | |
| ENST00000629241.2:c.2133+152T>C | ENSP00000487142.1:n.2133+152T>C | |
| ENST00000629676.2:c.1680-6051T>C | ENSP00000486194.1:n.1680-6051T>C | |
| NM_004518.4:c.2285T>C | NP_004509.2:p.Ile762Thr | |
| NM_172106.1:c.2315T>C | NP_742104.1:p.Ile772Thr | |
| NM_172107.2:c.2369T>C | NP_742105.1:p.Ile790Thr | |
| NM_172108.3:c.2276T>C | NP_742106.1:p.Ile759Thr | |
| XM_006723787.1:c.2411T>C | XP_006723850.1:p.Ile804Thr | |
| XM_011528807.1:c.2477T>C | XP_011527109.1:p.Ile826Thr | |
| XM_011528808.1:c.2474T>C | XP_011527110.1:p.Ile825Thr | |
| XM_011528809.1:c.2447T>C | XP_011527111.1:p.Ile816Thr | |
| XM_011528810.1:c.2423T>C | XP_011527112.1:p.Ile808Thr | |
| XM_011528811.1:c.2393T>C | XP_011527113.1:p.Ile798Thr | |
| XM_011528812.1:c.2366T>C | XP_011527114.1:p.Ile789Thr | |
| XM_011528813.1:c.2351T>C | XP_011527115.1:p.Ile784Thr | |
| XM_011528814.1:c.1958T>C | XP_011527116.1:p.Ile653Thr | |
| NM_004518.5:c.2285T>C | NP_004509.2:p.Ile762Thr | |
| NM_172106.2:c.2315T>C | NP_742104.1:p.Ile772Thr | |
| NM_172107.3:c.2369T>C | NP_742105.1:p.Ile790Thr | |
| NM_172108.4:c.2276T>C | NP_742106.1:p.Ile759Thr | |
| XM_011528810.2:c.2423T>C | XP_011527112.1:p.Ile808Thr | |
| XM_011528811.2:c.2393T>C | XP_011527113.1:p.Ile798Thr | |
| XM_017027841.2:c.2420T>C | XP_016883330.1:p.Ile807Thr | |
| XM_017027842.2:c.2357T>C | XP_016883331.1:p.Ile786Thr | |
| XM_017027843.1:c.2354T>C | XP_016883332.1:p.Ile785Thr | |
| XM_017027844.2:c.2312T>C | XP_016883333.1:p.Ile771Thr | |
| XM_017027845.1:c.1385T>C | XP_016883334.1:p.Ile462Thr | |
| NM_004518.6:c.2285T>C | NP_004509.2:p.Ile762Thr | |
| NM_172106.3:c.2315T>C | NP_742104.1:p.Ile772Thr | |
| NM_172107.4:c.2369T>C MANE Select | NP_742105.1:p.Ile790Thr | |
| NM_172108.5:c.2276T>C | NP_742106.1:p.Ile759Thr | |
| NM_001382235.1:c.2423T>C | NP_001369164.1:p.Ile808Thr |