Linked Data
ClinVar Variation Id:
377291
dbSNP Id:
rs371833544
ExAC:
12:88453691 C / T
gnomAD v2:
12-88453691-C-T
gnomAD v3:
12-88059914-C-T
gnomAD v4:
12-88059914-C-T
COSMIC:
COSM3710849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88059914C>T , CM000674.2:g.88059914C>T | GRCh38 |
| NC_000012.11:g.88453691C>T , CM000674.1:g.88453691C>T | GRCh37 |
| NC_000012.10:g.86977822C>T | NCBI36 |
| NG_008417.1:g.87303G>A | |
| NG_008417.2:g.87303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6638G>A | ENSP00000308021.8:p.Arg2213His | |
| ENST00000547691.8:c.3913G>A | ||
| ENST00000552810.6:c.6629G>A MANE Select | ENSP00000448012.1:p.Arg2210His | |
| ENST00000671777.2:n.408G>A | ||
| ENST00000672414.2:c.*4635G>A | ENSP00000500729.1:n.*4635G>A | |
| ENST00000672647.1:n.4989G>A | ||
| ENST00000673058.2:c.6523-894G>A | ENSP00000500665.2:n.6523-894G>A | |
| ENST00000674889.1:n.3582G>A | ||
| ENST00000674971.1:c.6629G>A | ENSP00000502194.1:p.Arg2210His | |
| ENST00000675230.1:c.6608G>A | ENSP00000502503.1:p.Arg2203His | |
| ENST00000675408.1:c.6464G>A | ENSP00000502298.1:p.Arg2155His | |
| ENST00000675476.1:c.7490G>A | ENSP00000502161.1:p.Arg2497His | |
| ENST00000675628.1:n.6856G>A | ||
| ENST00000675794.1:c.*4800G>A | ENSP00000502841.1:n.*4800G>A | |
| ENST00000675833.1:c.7397G>A | ENSP00000502559.1:p.Arg2466His | |
| ENST00000675894.1:n.2934G>A | ||
| ENST00000676074.1:c.6464G>A | ENSP00000502079.1:p.Arg2155His | |
| ENST00000676181.1:n.5557G>A | ||
| ENST00000676190.1:n.1068G>A | ||
| ENST00000676363.1:n.12355G>A | ||
| ENST00000309041.11:c.6635G>A | ENSP00000308021.7:p.Arg2212His | |
| ENST00000547691.6:c.3809G>A | ENSP00000446905.1:p.Arg1270His | |
| ENST00000552810.5:c.6629G>A | ENSP00000448012.1:p.Arg2210His | |
| NM_025114.3:c.6629G>A | NP_079390.3:p.Arg2210His | |
| XM_011538756.1:c.7499G>A | XP_011537058.1:p.Arg2500His | |
| XM_011538757.1:c.7499G>A | XP_011537059.1:p.Arg2500His | |
| XM_011538758.1:c.7496G>A | XP_011537060.1:p.Arg2499His | |
| XM_011538759.1:c.7490G>A | XP_011537061.1:p.Arg2497His | |
| XM_011538760.1:c.7393-894G>A | XP_011537062.1:n.7393-894G>A | |
| XM_011538761.1:c.7334G>A | XP_011537063.1:p.Arg2445His | |
| XM_011538762.1:c.6731G>A | XP_011537064.1:p.Arg2244His | |
| XM_011538763.1:c.6638G>A | XP_011537065.1:p.Arg2213His | |
| XM_011538766.1:c.5960G>A | XP_011537068.1:p.Arg1987His | |
| XR_945163.1:n.967+2894C>T | ||
| XM_011538756.3:c.7499G>A | XP_011537058.1:p.Arg2500His | |
| XM_011538757.3:c.7499G>A | XP_011537059.1:p.Arg2500His | |
| XM_011538758.3:c.7496G>A | XP_011537060.1:p.Arg2499His | |
| XM_011538759.2:c.7490G>A | XP_011537061.1:p.Arg2497His | |
| XM_011538760.2:c.7393-894G>A | XP_011537062.1:n.7393-894G>A | |
| XM_011538761.2:c.7334G>A | XP_011537063.1:p.Arg2445His | |
| XM_011538762.3:c.6731G>A | XP_011537064.1:p.Arg2244His | |
| XM_011538763.3:c.6638G>A | XP_011537065.1:p.Arg2213His | |
| XM_011538766.3:c.5960G>A | XP_011537068.1:p.Arg1987His | |
| XM_017019980.2:c.7384-894G>A | XP_016875469.1:n.7384-894G>A | |
| XM_017019981.2:c.7325G>A | XP_016875470.1:p.Arg2442His | |
| XM_017019982.1:c.7499G>A | XP_016875471.1:p.Arg2500His | |
| XM_017019983.2:c.6617G>A | XP_016875472.1:p.Arg2206His | |
| XR_001748869.1:n.7834G>A | ||
| XR_001748870.2:n.7669G>A | ||
| NM_025114.4:c.6629G>A MANE Select | NP_079390.3:p.Arg2210His |