Linked Data
ClinVar Variation Id:
1934847
ClinVar RCV Id:
RCV002622772
dbSNP Id:
rs1179024050
gnomAD v2:
3-148727188-G-A
gnomAD v4:
3-149009401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149009401G>A , CM000665.2:g.149009401G>A | GRCh38 |
| NC_000003.11:g.148727188G>A , CM000665.1:g.148727188G>A | GRCh37 |
| NC_000003.10:g.150209878G>A | NCBI36 |
| NG_027677.1:g.22994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345003.9:c.607G>A MANE Select | ENSP00000340736.4:p.Val203Met | |
| ENST00000296048.10:c.607G>A | ENSP00000296048.6:p.Val203Met | |
| ENST00000345003.8:c.607G>A | ENSP00000340736.4:p.Val203Met | |
| ENST00000461191.1:c.595G>A | ENSP00000420247.1:p.Val199Met | |
| ENST00000469873.1:n.521G>A | ||
| ENST00000479119.1:n.223G>A | ||
| ENST00000483267.5:c.469+12509G>A | ENSP00000419499.1:n.469+12509G>A | |
| ENST00000484197.5:c.607G>A | ENSP00000420683.1:p.Val203Met | |
| ENST00000627418.2:c.469+12509G>A | ENSP00000486061.1:n.469+12509G>A | |
| NM_001184720.1:c.607G>A | NP_001171649.1:p.Val203Met | |
| NM_001184721.1:c.607G>A | NP_001171650.1:p.Val203Met | |
| NM_004130.3:c.607G>A | NP_004121.2:p.Val203Met | |
| XM_017006275.1:c.430G>A | XP_016861764.1:p.Val144Met | |
| XM_017006276.1:c.145G>A | XP_016861765.1:p.Val49Met | |
| NM_004130.4:c.607G>A MANE Select | NP_004121.2:p.Val203Met | |
| NM_001184720.2:c.607G>A | NP_001171649.1:p.Val203Met | |
| NM_001184721.2:c.607G>A | NP_001171650.1:p.Val203Met |