Linked Data
dbSNP Id:
rs770410806
ExAC:
7:117243745 T / A
gnomAD v2:
7-117243745-T-A
gnomAD v4:
7-117603691-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603691T>A , CM000669.2:g.117603691T>A | GRCh38 |
| NC_000007.13:g.117243745T>A , CM000669.1:g.117243745T>A | GRCh37 |
| NC_000007.12:g.117030981T>A | NCBI36 |
| NG_016465.4:g.142908T>A , LRG_663:g.142908T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2817T>A | ENSP00000497673.2:p.His939Gln | |
| ENST00000647978.2:c.*2531T>A | ENSP00000497658.1:n.*2531T>A | |
| ENST00000649781.2:c.2634T>A | ENSP00000497203.1:p.His878Gln | |
| ENST00000685018.2:c.2817T>A | ENSP00000510194.2:p.His939Gln | |
| ENST00000687278.2:c.2817T>A | ENSP00000509593.2:p.His939Gln | |
| ENST00000699585.1:c.2817T>A | ENSP00000514456.1:p.His939Gln | |
| ENST00000699598.1:c.2817T>A | ENSP00000514467.1:p.His939Gln | |
| ENST00000699599.1:c.2817T>A | ENSP00000514468.1:p.His939Gln | |
| ENST00000699600.1:c.2817T>A | ENSP00000514469.1:p.His939Gln | |
| ENST00000699601.1:c.*1117T>A | ENSP00000514470.1:n.*1117T>A | |
| ENST00000699602.1:c.2817T>A | ENSP00000514471.1:p.His939Gln | |
| ENST00000699604.1:c.*2641T>A | ENSP00000514472.1:n.*2641T>A | |
| ENST00000699605.1:c.2391T>A | ENSP00000514473.1:p.His797Gln | |
| ENST00000687278.1:c.408T>A | ENSP00000509593.1:p.His136Gln | |
| ENST00000003084.11:c.2817T>A MANE Select | ENSP00000003084.6:p.His939Gln | |
| ENST00000647720.1:c.467T>A | ||
| ENST00000648260.1:c.1599T>A | ENSP00000497957.1:p.His533Gln | |
| ENST00000649406.1:c.2634T>A | ENSP00000497965.1:p.His878Gln | |
| ENST00000649781.1:c.2634T>A | ENSP00000497203.1:p.His878Gln | |
| ENST00000003084.10:c.2817T>A | ENSP00000003084.6:p.His939Gln | |
| ENST00000426809.5:c.2727T>A | ENSP00000389119.1:p.His909Gln | |
| NM_000492.3:c.2817T>A , LRG_663t1:c.2817T>A | NP_000483.3:p.His939Gln | |
| XM_011515751.1:c.2907T>A | XP_011514053.1:p.His969Gln | |
| XM_011515752.1:c.2907T>A | XP_011514054.1:p.His969Gln | |
| XM_011515753.1:c.2574T>A | XP_011514055.1:p.His858Gln | |
| XM_011515754.1:c.2574T>A | XP_011514056.1:p.His858Gln | |
| NM_000492.4:c.2817T>A MANE Select | NP_000483.3:p.His939Gln |