Linked Data
ClinVar Variation Id:
159710
dbSNP Id:
rs184077858
ExAC:
17:16216927 A / C
gnomAD v2:
17-16216927-A-C
gnomAD v3:
17-16313613-A-C
gnomAD v4:
17-16313613-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16313613A>C , CM000679.2:g.16313613A>C | GRCh38 |
| NC_000017.10:g.16216927A>C , CM000679.1:g.16216927A>C | GRCh37 |
| NC_000017.9:g.16157652A>C | NCBI36 |
| NG_032651.1:g.101419A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.493A>C MANE Select | ENSP00000225609.5:p.Arg165= | |
| ENST00000225609.9:c.493A>C | ENSP00000225609.5:p.Arg165= | |
| ENST00000395844.8:c.493A>C | ENSP00000379185.3:p.Arg165= | |
| ENST00000477745.5:n.491A>C | ||
| ENST00000498772.6:n.510A>C | ||
| ENST00000580201.1:n.505A>C | ||
| ENST00000581006.5:c.426+13635A>C | ENSP00000462432.1:n.426+13635A>C | |
| ENST00000584797.5:c.493A>C | ENSP00000463540.1:p.Arg165= | |
| ENST00000585034.5:c.*87A>C | ENSP00000464424.1:n.*87A>C | |
| ENST00000596678.2:c.67A>C | ENSP00000470064.2:p.Arg23= | |
| NM_004278.3:c.493A>C | NP_004269.1:p.Arg165= | |
| XM_011524080.1:c.493A>C | XP_011522382.1:p.Arg165= | |
| XR_243571.2:n.511A>C | ||
| XR_429826.2:n.511A>C | ||
| XM_011524080.2:c.493A>C | XP_011522382.1:p.Arg165= | |
| XM_017025349.1:c.493A>C | XP_016880838.1:p.Arg165= | |
| XM_017025350.1:c.493A>C | XP_016880839.1:p.Arg165= | |
| XM_017025351.1:c.493A>C | XP_016880840.1:p.Arg165= | |
| XM_017025352.1:c.493A>C | XP_016880841.1:p.Arg165= | |
| XM_017025353.1:c.493A>C | XP_016880842.1:p.Arg165= | |
| XM_017025354.1:c.493A>C | XP_016880843.1:p.Arg165= | |
| XM_017025355.1:c.493A>C | XP_016880844.1:p.Arg165= | |
| XM_017025356.1:c.493A>C | XP_016880845.1:p.Arg165= | |
| NM_004278.4:c.493A>C MANE Select | NP_004269.1:p.Arg165= |