Linked Data
ClinVar Variation Id:
379980
ClinVar RCV Id:
RCV001520209
dbSNP Id:
rs4938
ExAC:
3:148727133 G / A
gnomAD v2:
3-148727133-G-A
gnomAD v3:
3-149009346-G-A
gnomAD v4:
3-149009346-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149009346G>A , CM000665.2:g.149009346G>A | GRCh38 |
| NC_000003.11:g.148727133G>A , CM000665.1:g.148727133G>A | GRCh37 |
| NC_000003.10:g.150209823G>A | NCBI36 |
| NG_027677.1:g.22939G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.552G>A MANE Select | ENSP00000340736.4:p.Pro184= | |
| ENST00000296048.10:c.552G>A | ENSP00000296048.6:p.Pro184= | |
| ENST00000345003.8:c.552G>A | ENSP00000340736.4:p.Pro184= | |
| ENST00000461191.1:c.540G>A | ENSP00000420247.1:p.Pro180= | |
| ENST00000469873.1:n.466G>A | ||
| ENST00000479119.1:n.168G>A | ||
| ENST00000483267.5:c.469+12454G>A | ENSP00000419499.1:n.469+12454G>A | |
| ENST00000484197.5:c.552G>A | ENSP00000420683.1:p.Pro184= | |
| ENST00000497528.5:n.191G>A | ||
| ENST00000627418.2:c.469+12454G>A | ENSP00000486061.1:n.469+12454G>A | |
| NM_001184720.1:c.552G>A | NP_001171649.1:p.Pro184= | |
| NM_001184721.1:c.552G>A | NP_001171650.1:p.Pro184= | |
| NM_004130.3:c.552G>A | NP_004121.2:p.Pro184= | |
| XM_017006275.1:c.375G>A | XP_016861764.1:p.Pro125= | |
| XM_017006276.1:c.90G>A | XP_016861765.1:p.Pro30= | |
| NM_004130.4:c.552G>A MANE Select | NP_004121.2:p.Pro184= | |
| NM_001184720.2:c.552G>A | NP_001171649.1:p.Pro184= | |
| NM_001184721.2:c.552G>A | NP_001171650.1:p.Pro184= |