Linked Data
ClinVar Variation Id:
369758
ClinVar RCV Id:
RCV000678135
dbSNP Id:
rs1057516090
gnomAD v4:
20-63444699-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63444699G>T , CM000682.2:g.63444699G>T | GRCh38 |
| NC_000020.10:g.62076052G>T , CM000682.1:g.62076052G>T | GRCh37 |
| NC_000020.9:g.61546496G>T | NCBI36 |
| NG_009004.1:g.32942C>A | |
| NG_009004.2:g.32942C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706989.1:c.650C>A | ENSP00000516702.1:p.Thr217Asn | |
| ENST00000344425.8:c.650C>A | ENSP00000345523.5:p.Thr217Asn | |
| ENST00000359125.7:c.650C>A MANE Select | ENSP00000352035.2:p.Thr217Asn | |
| ENST00000636255.1:n.388C>A | ||
| ENST00000636873.1:n.44C>A | ||
| ENST00000637193.1:c.131C>A | ENSP00000490734.1:p.Thr44Asn | |
| ENST00000344425.7:c.650C>A | ENSP00000345523.5:p.Thr217Asn | |
| ENST00000344462.8:c.650C>A | ENSP00000339611.4:p.Thr217Asn | |
| ENST00000357249.6:c.308C>A | ENSP00000349789.3:p.Thr103Asn | |
| ENST00000359125.6:c.650C>A | ENSP00000352035.2:p.Thr217Asn | |
| ENST00000360480.7:c.650C>A | ENSP00000353668.3:p.Thr217Asn | |
| ENST00000370221.3:n.776C>A | ||
| ENST00000370224.5:c.650C>A | ENSP00000359244.2:p.Thr217Asn | |
| ENST00000625514.2:c.650C>A | ENSP00000486040.1:p.Thr217Asn | |
| ENST00000626313.1:n.492C>A | ||
| ENST00000626684.1:c.15C>A | ||
| ENST00000626839.2:c.650C>A | ENSP00000486706.1:p.Thr217Asn | |
| ENST00000629241.2:c.650C>A | ENSP00000487142.1:p.Thr217Asn | |
| ENST00000629498.2:c.71C>A | ENSP00000486509.1:p.Thr24Asn | |
| ENST00000629676.2:c.650C>A | ENSP00000486194.1:p.Thr217Asn | |
| ENST00000630274.2:n.475C>A | ||
| NM_004518.4:c.650C>A | NP_004509.2:p.Thr217Asn | |
| NM_172106.1:c.650C>A | NP_742104.1:p.Thr217Asn | |
| NM_172107.2:c.650C>A | NP_742105.1:p.Thr217Asn | |
| NM_172108.3:c.650C>A | NP_742106.1:p.Thr217Asn | |
| NM_172109.1:c.650C>A | NP_742107.1:p.Thr217Asn | |
| XM_006723787.1:c.650C>A | XP_006723850.1:p.Thr217Asn | |
| XM_011528807.1:c.650C>A | XP_011527109.1:p.Thr217Asn | |
| XM_011528808.1:c.650C>A | XP_011527110.1:p.Thr217Asn | |
| XM_011528809.1:c.650C>A | XP_011527111.1:p.Thr217Asn | |
| XM_011528810.1:c.650C>A | XP_011527112.1:p.Thr217Asn | |
| XM_011528811.1:c.650C>A | XP_011527113.1:p.Thr217Asn | |
| XM_011528812.1:c.650C>A | XP_011527114.1:p.Thr217Asn | |
| XM_011528813.1:c.650C>A | XP_011527115.1:p.Thr217Asn | |
| XM_011528814.1:c.131C>A | XP_011527116.1:p.Thr44Asn | |
| XM_011528815.1:c.650C>A | XP_011527117.1:p.Thr217Asn | |
| XM_011528816.1:c.650C>A | XP_011527118.1:p.Thr217Asn | |
| NM_004518.5:c.650C>A | NP_004509.2:p.Thr217Asn | |
| NM_172106.2:c.650C>A | NP_742104.1:p.Thr217Asn | |
| NM_172107.3:c.650C>A | NP_742105.1:p.Thr217Asn | |
| NM_172108.4:c.650C>A | NP_742106.1:p.Thr217Asn | |
| NM_172109.2:c.650C>A | NP_742107.1:p.Thr217Asn | |
| XM_011528810.2:c.650C>A | XP_011527112.1:p.Thr217Asn | |
| XM_011528811.2:c.650C>A | XP_011527113.1:p.Thr217Asn | |
| XM_017027841.2:c.650C>A | XP_016883330.1:p.Thr217Asn | |
| XM_017027842.2:c.650C>A | XP_016883331.1:p.Thr217Asn | |
| XM_017027843.1:c.581C>A | XP_016883332.1:p.Thr194Asn | |
| XM_017027844.2:c.650C>A | XP_016883333.1:p.Thr217Asn | |
| NM_004518.6:c.650C>A | NP_004509.2:p.Thr217Asn | |
| NM_172106.3:c.650C>A | NP_742104.1:p.Thr217Asn | |
| NM_172107.4:c.650C>A MANE Select | NP_742105.1:p.Thr217Asn | |
| NM_172108.5:c.650C>A | NP_742106.1:p.Thr217Asn | |
| NM_172109.3:c.650C>A | NP_742107.1:p.Thr217Asn | |
| NM_001382235.1:c.650C>A | NP_001369164.1:p.Thr217Asn |