Linked Data
dbSNP Id:
rs2079952474
gnomAD v4:
20-63406848-G-A
MyVariant Identifiers:
chr20:g.62038201G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406848G>A , CM000682.2:g.63406848G>A | GRCh38 |
| NC_000020.10:g.62038201G>A , CM000682.1:g.62038201G>A | GRCh37 |
| NC_000020.9:g.61508645G>A | NCBI36 |
| NG_009004.1:g.70793C>T | |
| NG_009004.2:g.70793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2469C>T | ENSP00000516702.1:p.Phe823= | |
| ENST00000359125.7:c.2415C>T MANE Select | ENSP00000352035.2:p.Phe805= | |
| ENST00000637193.1:c.1812C>T | ENSP00000490734.1:p.Phe604= | |
| ENST00000344462.8:c.2322C>T | ENSP00000339611.4:p.Phe774= | |
| ENST00000357249.6:c.1983C>T | ENSP00000349789.3:p.Phe661= | |
| ENST00000359125.6:c.2415C>T | ENSP00000352035.2:p.Phe805= | |
| ENST00000360480.7:c.2331C>T | ENSP00000353668.3:p.Phe777= | |
| ENST00000370224.5:c.2241+198C>T | ENSP00000359244.2:n.2241+198C>T | |
| ENST00000625514.2:c.2205+198C>T | ENSP00000486040.1:n.2205+198C>T | |
| ENST00000626839.2:c.2361C>T | ENSP00000486706.1:p.Phe787= | |
| ENST00000629241.2:c.2133+198C>T | ENSP00000487142.1:n.2133+198C>T | |
| ENST00000629676.2:c.1680-6005C>T | ENSP00000486194.1:n.1680-6005C>T | |
| NM_004518.4:c.2331C>T | NP_004509.2:p.Phe777= | |
| NM_172106.1:c.2361C>T | NP_742104.1:p.Phe787= | |
| NM_172107.2:c.2415C>T | NP_742105.1:p.Phe805= | |
| NM_172108.3:c.2322C>T | NP_742106.1:p.Phe774= | |
| XM_006723787.1:c.2457C>T | XP_006723850.1:p.Phe819= | |
| XM_011528807.1:c.2523C>T | XP_011527109.1:p.Phe841= | |
| XM_011528808.1:c.2520C>T | XP_011527110.1:p.Phe840= | |
| XM_011528809.1:c.2493C>T | XP_011527111.1:p.Phe831= | |
| XM_011528810.1:c.2469C>T | XP_011527112.1:p.Phe823= | |
| XM_011528811.1:c.2439C>T | XP_011527113.1:p.Phe813= | |
| XM_011528812.1:c.2412C>T | XP_011527114.1:p.Phe804= | |
| XM_011528813.1:c.2397C>T | XP_011527115.1:p.Phe799= | |
| XM_011528814.1:c.2004C>T | XP_011527116.1:p.Phe668= | |
| NM_004518.5:c.2331C>T | NP_004509.2:p.Phe777= | |
| NM_172106.2:c.2361C>T | NP_742104.1:p.Phe787= | |
| NM_172107.3:c.2415C>T | NP_742105.1:p.Phe805= | |
| NM_172108.4:c.2322C>T | NP_742106.1:p.Phe774= | |
| XM_011528810.2:c.2469C>T | XP_011527112.1:p.Phe823= | |
| XM_011528811.2:c.2439C>T | XP_011527113.1:p.Phe813= | |
| XM_017027841.2:c.2466C>T | XP_016883330.1:p.Phe822= | |
| XM_017027842.2:c.2403C>T | XP_016883331.1:p.Phe801= | |
| XM_017027843.1:c.2400C>T | XP_016883332.1:p.Phe800= | |
| XM_017027844.2:c.2358C>T | XP_016883333.1:p.Phe786= | |
| XM_017027845.1:c.1431C>T | XP_016883334.1:p.Phe477= | |
| NM_004518.6:c.2331C>T | NP_004509.2:p.Phe777= | |
| NM_172106.3:c.2361C>T | NP_742104.1:p.Phe787= | |
| NM_172107.4:c.2415C>T MANE Select | NP_742105.1:p.Phe805= | |
| NM_172108.5:c.2322C>T | NP_742106.1:p.Phe774= | |
| NM_001382235.1:c.2469C>T | NP_001369164.1:p.Phe823= |