Linked Data
ClinVar Variation Id:
1936364
ClinVar RCV Id:
RCV002636381
MyVariant Identifiers:
chr20:g.62038176G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406823G>A , CM000682.2:g.63406823G>A | GRCh38 |
| NC_000020.10:g.62038176G>A , CM000682.1:g.62038176G>A | GRCh37 |
| NC_000020.9:g.61508620G>A | NCBI36 |
| NG_009004.1:g.70818C>T | |
| NG_009004.2:g.70818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2494C>T | ENSP00000516702.1:p.Leu832= | |
| ENST00000359125.7:c.2440C>T MANE Select | ENSP00000352035.2:p.Leu814= | |
| ENST00000637193.1:c.1837C>T | ENSP00000490734.1:p.Leu613= | |
| ENST00000344462.8:c.2347C>T | ENSP00000339611.4:p.Leu783= | |
| ENST00000357249.6:c.2008C>T | ENSP00000349789.3:p.Leu670= | |
| ENST00000359125.6:c.2440C>T | ENSP00000352035.2:p.Leu814= | |
| ENST00000360480.7:c.2356C>T | ENSP00000353668.3:p.Leu786= | |
| ENST00000370224.5:c.2241+223C>T | ENSP00000359244.2:n.2241+223C>T | |
| ENST00000625514.2:c.2205+223C>T | ENSP00000486040.1:n.2205+223C>T | |
| ENST00000626839.2:c.2386C>T | ENSP00000486706.1:p.Leu796= | |
| ENST00000629241.2:c.2133+223C>T | ENSP00000487142.1:n.2133+223C>T | |
| ENST00000629676.2:c.1680-5980C>T | ENSP00000486194.1:n.1680-5980C>T | |
| NM_004518.4:c.2356C>T | NP_004509.2:p.Leu786= | |
| NM_172106.1:c.2386C>T | NP_742104.1:p.Leu796= | |
| NM_172107.2:c.2440C>T | NP_742105.1:p.Leu814= | |
| NM_172108.3:c.2347C>T | NP_742106.1:p.Leu783= | |
| XM_006723787.1:c.2482C>T | XP_006723850.1:p.Leu828= | |
| XM_011528807.1:c.2548C>T | XP_011527109.1:p.Leu850= | |
| XM_011528808.1:c.2545C>T | XP_011527110.1:p.Leu849= | |
| XM_011528809.1:c.2518C>T | XP_011527111.1:p.Leu840= | |
| XM_011528810.1:c.2494C>T | XP_011527112.1:p.Leu832= | |
| XM_011528811.1:c.2464C>T | XP_011527113.1:p.Leu822= | |
| XM_011528812.1:c.2437C>T | XP_011527114.1:p.Leu813= | |
| XM_011528813.1:c.2422C>T | XP_011527115.1:p.Leu808= | |
| XM_011528814.1:c.2029C>T | XP_011527116.1:p.Leu677= | |
| NM_004518.5:c.2356C>T | NP_004509.2:p.Leu786= | |
| NM_172106.2:c.2386C>T | NP_742104.1:p.Leu796= | |
| NM_172107.3:c.2440C>T | NP_742105.1:p.Leu814= | |
| NM_172108.4:c.2347C>T | NP_742106.1:p.Leu783= | |
| XM_011528810.2:c.2494C>T | XP_011527112.1:p.Leu832= | |
| XM_011528811.2:c.2464C>T | XP_011527113.1:p.Leu822= | |
| XM_017027841.2:c.2491C>T | XP_016883330.1:p.Leu831= | |
| XM_017027842.2:c.2428C>T | XP_016883331.1:p.Leu810= | |
| XM_017027843.1:c.2425C>T | XP_016883332.1:p.Leu809= | |
| XM_017027844.2:c.2383C>T | XP_016883333.1:p.Leu795= | |
| XM_017027845.1:c.1456C>T | XP_016883334.1:p.Leu486= | |
| NM_004518.6:c.2356C>T | NP_004509.2:p.Leu786= | |
| NM_172106.3:c.2386C>T | NP_742104.1:p.Leu796= | |
| NM_172107.4:c.2440C>T MANE Select | NP_742105.1:p.Leu814= | |
| NM_172108.5:c.2347C>T | NP_742106.1:p.Leu783= | |
| NM_001382235.1:c.2494C>T | NP_001369164.1:p.Leu832= |