Linked Data
ClinVar Variation Id:
1681738
ClinVar RCV Id:
RCV002239240
dbSNP Id:
rs746422516
ExAC:
12:57905566 G / A
gnomAD v2:
12-57905566-G-A
gnomAD v3:
12-57511783-G-A
gnomAD v4:
12-57511783-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511783G>A , CM000674.2:g.57511783G>A | GRCh38 |
| NC_000012.11:g.57905566G>A , CM000674.1:g.57905566G>A | GRCh37 |
| NC_000012.10:g.56191833G>A | NCBI36 |
| NG_034077.1:g.28831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1454G>A MANE Select | ENSP00000262027.5:p.Trp485Ter | |
| ENST00000262027.9:c.1454G>A | ENSP00000262027.5:p.Trp485Ter | |
| ENST00000447721.6:n.1096G>A | ||
| ENST00000537638.6:c.1454G>A | ENSP00000446168.2:p.Trp485Ter | |
| ENST00000545888.6:c.*955G>A | ENSP00000439307.2:n.*955G>A | |
| ENST00000546971.5:n.198G>A | ||
| ENST00000548630.1:n.15G>A | ||
| ENST00000548944.1:c.134-4712G>A | ENSP00000449071.1:n.134-4712G>A | |
| ENST00000549603.1:n.400G>A | ||
| ENST00000628866.2:c.*955G>A | ENSP00000486738.1:n.*955G>A | |
| NM_004990.3:c.1454G>A | NP_004981.2:p.Trp485Ter | |
| XM_006719398.2:c.752G>A | XP_006719461.1:p.Trp251Ter | |
| XM_011538353.1:c.1454G>A | XP_011536655.1:p.Trp485Ter | |
| XM_006719398.4:c.752G>A | XP_006719461.1:p.Trp251Ter | |
| XR_001748704.2:n.1477G>A | ||
| XR_002957327.1:n.1401G>A | ||
| NM_004990.4:c.1454G>A MANE Select | NP_004981.2:p.Trp485Ter |