Linked Data
dbSNP Id:
rs757538664
ExAC:
14:80669299 G / A
gnomAD v2:
14-80669299-G-A
gnomAD v3:
14-80202956-G-A
gnomAD v4:
14-80202956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80202956G>A , CM000676.2:g.80202956G>A | GRCh38 |
| NC_000014.8:g.80669299G>A , CM000676.1:g.80669299G>A | GRCh37 |
| NC_000014.7:g.79739052G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438257.9:c.555C>T MANE Select | ENSP00000405854.5:p.His185= | |
| ENST00000555750.2:c.*393C>T | ENSP00000450980.2:n.*393C>T | |
| ENST00000422005.7:c.*356C>T | ENSP00000411438.4:n.*356C>T | |
| ENST00000438257.8:c.555C>T | ENSP00000405854.4:p.His185= | |
| ENST00000555750.1:c.663C>T | ENSP00000450980.1:p.His221= | |
| ENST00000555844.1:c.639C>T | ||
| ENST00000556811.5:c.531C>T | ||
| ENST00000557010.5:c.555C>T | ENSP00000451419.1:p.His185= | |
| ENST00000557125.1:c.179C>T | ENSP00000450547.1:n.179C>T | |
| NM_000793.5:c.555C>T | NP_000784.2:p.His185= | |
| NM_001007023.3:c.663C>T | NP_001007024.1:p.His221= | |
| NM_001242502.1:c.*356C>T | NP_001229431.1:n.*356C>T | |
| NM_001242503.1:c.*356C>T | NP_001229432.1:n.*356C>T | |
| NM_013989.4:c.555C>T | NP_054644.1:p.His185= | |
| NM_000793.6:c.555C>T | NP_000784.3:p.His185= | |
| NM_001324462.2:c.555C>T | NP_001311391.2:p.His185= | |
| NM_001366496.1:c.555C>T | NP_001353425.1:p.His185= | |
| NM_013989.5:c.555C>T MANE Select | NP_054644.1:p.His185= | |
| NR_158990.1:n.695C>T | ||
| NR_158991.1:n.829C>T |