Linked Data
ClinVar Variation Id:
474634
ClinVar RCV Id:
RCV000545795
dbSNP Id:
rs116473422
ExAC:
12:49314820 G / A
gnomAD v2:
12-49314820-G-A
gnomAD v3:
12-48921037-G-A
gnomAD v4:
12-48921037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48921037G>A , CM000674.2:g.48921037G>A | GRCh38 |
| NC_000012.11:g.49314820G>A , CM000674.1:g.49314820G>A | GRCh37 |
| NC_000012.10:g.47601087G>A | NCBI36 |
| NG_033837.1:g.21928G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320516.5:c.1134G>A MANE Select | ENSP00000312706.4:p.Gly378= | |
| ENST00000266984.9:c.1134G>A | ENSP00000266984.5:p.Gly378= | |
| ENST00000320516.4:c.1134G>A | ENSP00000312706.4:p.Gly378= | |
| ENST00000398092.4:c.385-17129C>T | ENSP00000438507.1:n.385-17129C>T | |
| ENST00000547861.5:c.*965G>A | ENSP00000447157.1:n.*965G>A | |
| ENST00000552942.5:c.825G>A | ENSP00000446569.1:p.Gly275= | |
| NM_001286957.1:c.705G>A | NP_001273886.1:p.Gly235= | |
| NM_033124.4:c.1134G>A | NP_149115.2:p.Gly378= | |
| XM_011538908.1:c.1161G>A | XP_011537210.1:p.Gly387= | |
| NM_033124.5:c.1134G>A MANE Select | NP_149115.2:p.Gly378= | |
| NM_001286957.2:c.705G>A | NP_001273886.1:p.Gly235= |