Linked Data
ClinVar Variation Id:
495930
dbSNP Id:
rs376968326
ExAC:
7:117251769 T / C
gnomAD v2:
7-117251769-T-C
gnomAD v3:
7-117611715-T-C
gnomAD v4:
7-117611715-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611715T>C , CM000669.2:g.117611715T>C | GRCh38 |
| NC_000007.13:g.117251769T>C , CM000669.1:g.117251769T>C | GRCh37 |
| NC_000007.12:g.117039005T>C | NCBI36 |
| NG_016465.4:g.150932T>C , LRG_663:g.150932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3274T>C | ENSP00000497673.2:p.Tyr1092His | |
| ENST00000647978.2:c.*2988T>C | ENSP00000497658.1:n.*2988T>C | |
| ENST00000649781.2:c.3091T>C | ENSP00000497203.1:p.Tyr1031His | |
| ENST00000685018.2:c.3274T>C | ENSP00000510194.2:p.Tyr1092His | |
| ENST00000687278.2:c.3274T>C | ENSP00000509593.2:p.Tyr1092His | |
| ENST00000699585.1:c.3274T>C | ENSP00000514456.1:p.Tyr1092His | |
| ENST00000699598.1:c.3274T>C | ENSP00000514467.1:p.Tyr1092His | |
| ENST00000699599.1:c.3274T>C | ENSP00000514468.1:p.Tyr1092His | |
| ENST00000699600.1:c.3274T>C | ENSP00000514469.1:p.Tyr1092His | |
| ENST00000699601.1:c.*1574T>C | ENSP00000514470.1:n.*1574T>C | |
| ENST00000699602.1:c.3274T>C | ENSP00000514471.1:p.Tyr1092His | |
| ENST00000699604.1:c.*3098T>C | ENSP00000514472.1:n.*3098T>C | |
| ENST00000699605.1:c.2848T>C | ENSP00000514473.1:p.Tyr950His | |
| ENST00000685018.1:c.22T>C | ENSP00000510194.1:p.Tyr8His | |
| ENST00000687278.1:c.865T>C | ENSP00000509593.1:p.Tyr289His | |
| ENST00000003084.11:c.3274T>C MANE Select | ENSP00000003084.6:p.Tyr1092His | |
| ENST00000647720.1:c.924T>C | ||
| ENST00000648260.1:c.2056T>C | ENSP00000497957.1:p.Tyr686His | |
| ENST00000649406.1:c.3091T>C | ENSP00000497965.1:p.Tyr1031His | |
| ENST00000649781.1:c.3091T>C | ENSP00000497203.1:p.Tyr1031His | |
| ENST00000003084.10:c.3274T>C | ENSP00000003084.6:p.Tyr1092His | |
| ENST00000426809.5:c.3184T>C | ENSP00000389119.1:p.Tyr1062His | |
| ENST00000468795.1:c.99T>C | ||
| NM_000492.3:c.3274T>C , LRG_663t1:c.3274T>C | NP_000483.3:p.Tyr1092His | |
| XM_011515751.1:c.3364T>C | XP_011514053.1:p.Tyr1122His | |
| XM_011515752.1:c.3364T>C | XP_011514054.1:p.Tyr1122His | |
| XM_011515753.1:c.3031T>C | XP_011514055.1:p.Tyr1011His | |
| XM_011515754.1:c.3031T>C | XP_011514056.1:p.Tyr1011His | |
| NM_000492.4:c.3274T>C MANE Select | NP_000483.3:p.Tyr1092His |