Linked Data
ClinVar Variation Id:
321988
ClinVar RCV Id:
RCV003574744
dbSNP Id:
rs140211194
ExAC:
17:16216880 G / C
gnomAD v2:
17-16216880-G-C
gnomAD v3:
17-16313566-G-C
gnomAD v4:
17-16313566-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16313566G>C , CM000679.2:g.16313566G>C | GRCh38 |
| NC_000017.10:g.16216880G>C , CM000679.1:g.16216880G>C | GRCh37 |
| NC_000017.9:g.16157605G>C | NCBI36 |
| NG_032651.1:g.101372G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.446G>C MANE Select | ENSP00000225609.5:p.Gly149Ala | |
| ENST00000225609.9:c.446G>C | ENSP00000225609.5:p.Gly149Ala | |
| ENST00000395844.8:c.446G>C | ENSP00000379185.3:p.Gly149Ala | |
| ENST00000477745.5:n.444G>C | ||
| ENST00000498772.6:n.463G>C | ||
| ENST00000580201.1:n.458G>C | ||
| ENST00000581006.5:c.426+13588G>C | ENSP00000462432.1:n.426+13588G>C | |
| ENST00000584797.5:c.446G>C | ENSP00000463540.1:p.Gly149Ala | |
| ENST00000585034.5:c.*40G>C | ENSP00000464424.1:n.*40G>C | |
| ENST00000596678.2:c.20G>C | ENSP00000470064.2:p.Gly7Ala | |
| NM_004278.3:c.446G>C | NP_004269.1:p.Gly149Ala | |
| XM_011524080.1:c.446G>C | XP_011522382.1:p.Gly149Ala | |
| XR_243571.2:n.464G>C | ||
| XR_429826.2:n.464G>C | ||
| XM_011524080.2:c.446G>C | XP_011522382.1:p.Gly149Ala | |
| XM_017025349.1:c.446G>C | XP_016880838.1:p.Gly149Ala | |
| XM_017025350.1:c.446G>C | XP_016880839.1:p.Gly149Ala | |
| XM_017025351.1:c.446G>C | XP_016880840.1:p.Gly149Ala | |
| XM_017025352.1:c.446G>C | XP_016880841.1:p.Gly149Ala | |
| XM_017025353.1:c.446G>C | XP_016880842.1:p.Gly149Ala | |
| XM_017025354.1:c.446G>C | XP_016880843.1:p.Gly149Ala | |
| XM_017025355.1:c.446G>C | XP_016880844.1:p.Gly149Ala | |
| XM_017025356.1:c.446G>C | XP_016880845.1:p.Gly149Ala | |
| NM_004278.4:c.446G>C MANE Select | NP_004269.1:p.Gly149Ala |