Linked Data
dbSNP Id:
rs775882497
ExAC:
14:80669489 C / T
gnomAD v2:
14-80669489-C-T
gnomAD v4:
14-80203146-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203146C>T , CM000676.2:g.80203146C>T | GRCh38 |
| NC_000014.8:g.80669489C>T , CM000676.1:g.80669489C>T | GRCh37 |
| NC_000014.7:g.79739242C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438257.9:c.365G>A MANE Select | ENSP00000405854.5:p.Arg122His | |
| ENST00000555750.2:c.*203G>A | ENSP00000450980.2:n.*203G>A | |
| ENST00000422005.7:c.*166G>A | ENSP00000411438.4:n.*166G>A | |
| ENST00000438257.8:c.365G>A | ENSP00000405854.4:p.Arg122His | |
| ENST00000555750.1:c.473G>A | ENSP00000450980.1:p.Arg158His | |
| ENST00000555844.1:c.449G>A | ||
| ENST00000556811.5:c.341G>A | ||
| ENST00000557010.5:c.365G>A | ENSP00000451419.1:p.Arg122His | |
| ENST00000557125.1:c.49-60G>A | ENSP00000450547.1:n.49-60G>A | |
| NM_000793.5:c.365G>A | NP_000784.2:p.Arg122His | |
| NM_001007023.3:c.473G>A | NP_001007024.1:p.Arg158His | |
| NM_001242502.1:c.*166G>A | NP_001229431.1:n.*166G>A | |
| NM_001242503.1:c.*166G>A | NP_001229432.1:n.*166G>A | |
| NM_013989.4:c.365G>A | NP_054644.1:p.Arg122His | |
| NM_000793.6:c.365G>A | NP_000784.3:p.Arg122His | |
| NM_001324462.2:c.365G>A | NP_001311391.2:p.Arg122His | |
| NM_001366496.1:c.365G>A | NP_001353425.1:p.Arg122His | |
| NM_013989.5:c.365G>A MANE Select | NP_054644.1:p.Arg122His | |
| NR_158990.1:n.505G>A | ||
| NR_158991.1:n.639G>A |