Linked Data
ClinVar Variation Id:
353415
dbSNP Id:
rs547370426
ExAC:
5:37120365 T / C
gnomAD v2:
5-37120365-T-C
gnomAD v3:
5-37120263-T-C
gnomAD v4:
5-37120263-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37120263T>C , CM000667.2:g.37120263T>C | GRCh38 |
| NC_000005.9:g.37120365T>C , CM000667.1:g.37120365T>C | GRCh37 |
| NC_000005.8:g.37156122T>C | NCBI36 |
| NG_032772.1:g.134166A>G | |
| NG_032772.2:g.134166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.9263A>G MANE Select | ENSP00000498265.2:p.His3088Arg | |
| ENST00000676160.1:n.1769A>G | ||
| ENST00000425232.6:c.9101A>G | ENSP00000389014.2:p.His3034Arg | |
| ENST00000508244.5:c.9101A>G | ENSP00000421690.1:p.His3034Arg | |
| ENST00000509849.5:c.6275A>G | ENSP00000426337.1:n.6275A>G | |
| ENST00000512288.5:n.587A>G | ||
| ENST00000514429.5:c.6299A>G | ENSP00000424223.1:p.His2100Arg | |
| NM_023073.3:c.9101A>G | NP_075561.3:p.His3034Arg | |
| XM_005248345.2:c.9263A>G | XP_005248402.1:p.His3088Arg | |
| XM_005248346.2:c.9260A>G | XP_005248403.1:p.His3087Arg | |
| XM_005248347.2:c.9260A>G | XP_005248404.1:p.His3087Arg | |
| XM_005248349.2:c.9152A>G | XP_005248406.1:p.His3051Arg | |
| XM_005248350.2:c.9134A>G | XP_005248407.1:p.His3045Arg | |
| XM_005248353.3:c.5906A>G | XP_005248410.1:p.His1969Arg | |
| XM_006714489.2:c.9263A>G | XP_006714552.1:p.His3088Arg | |
| XM_006714491.2:c.3836A>G | XP_006714554.1:p.His1279Arg | |
| XM_011514085.1:c.9263A>G | XP_011512387.1:p.His3088Arg | |
| XM_011514086.1:c.9263A>G | XP_011512388.1:p.His3088Arg | |
| XM_011514087.1:c.9209A>G | XP_011512389.1:p.His3070Arg | |
| XM_011514088.1:c.9155A>G | XP_011512390.1:p.His3052Arg | |
| XM_011514089.1:c.9263A>G | XP_011512391.1:p.His3088Arg | |
| XM_011514090.1:c.8945A>G | XP_011512392.1:p.His2982Arg | |
| XM_011514091.1:c.8591A>G | XP_011512393.1:p.His2864Arg | |
| XM_011514094.1:c.6488A>G | XP_011512396.1:p.His2163Arg | |
| XR_427661.2:n.9438A>G | ||
| XR_925644.1:n.9438A>G | ||
| XM_005248345.4:c.9263A>G | XP_005248402.1:p.His3088Arg | |
| XM_005248346.4:c.9260A>G | XP_005248403.1:p.His3087Arg | |
| XM_005248347.4:c.9260A>G | XP_005248404.1:p.His3087Arg | |
| XM_005248349.4:c.9152A>G | XP_005248406.1:p.His3051Arg | |
| XM_005248350.4:c.9134A>G | XP_005248407.1:p.His3045Arg | |
| XM_006714491.3:c.3836A>G | XP_006714554.1:p.His1279Arg | |
| XM_011514085.3:c.9263A>G | XP_011512387.1:p.His3088Arg | |
| XM_011514086.3:c.9263A>G | XP_011512388.1:p.His3088Arg | |
| XM_011514087.2:c.9209A>G | XP_011512389.1:p.His3070Arg | |
| XM_011514088.2:c.9155A>G | XP_011512390.1:p.His3052Arg | |
| XM_011514089.2:c.9263A>G | XP_011512391.1:p.His3088Arg | |
| XM_011514090.3:c.8945A>G | XP_011512392.1:p.His2982Arg | |
| XM_011514094.2:c.6488A>G | XP_011512396.1:p.His2163Arg | |
| XM_017009760.1:c.9074A>G | XP_016865249.1:p.His3025Arg | |
| XM_017009761.2:c.9074A>G | XP_016865250.1:p.His3025Arg | |
| XM_017009763.1:c.8270A>G | XP_016865252.1:p.His2757Arg | |
| XM_017009765.1:c.8075A>G | XP_016865254.1:p.His2692Arg | |
| XM_017009766.1:c.5906A>G | XP_016865255.1:p.His1969Arg | |
| XM_024446183.1:c.9074A>G | XP_024301951.1:p.His3025Arg | |
| XM_024446184.1:c.8945A>G | XP_024301952.1:p.His2982Arg | |
| XM_024446185.1:c.8591A>G | XP_024301953.1:p.His2864Arg | |
| XM_024446186.1:c.8270A>G | XP_024301954.1:p.His2757Arg | |
| XR_925644.2:n.9487A>G | ||
| NM_001384732.1:c.9263A>G MANE Select | NP_001371661.1:p.His3088Arg | |
| NM_023073.4:c.9101A>G | NP_075561.3:p.His3034Arg |