Linked Data
ClinVar Variation Id:
387782
ClinVar RCV Id:
RCV000421603
dbSNP Id:
rs757066762
ExAC:
9:137734164 G / A
gnomAD v2:
9-137734164-G-A
gnomAD v3:
9-134842318-G-A
gnomAD v4:
9-134842318-G-A
COSMIC:
COSN4894239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842318G>A , CM000671.2:g.134842318G>A | GRCh38 |
| NC_000009.11:g.137734164G>A , CM000671.1:g.137734164G>A | GRCh37 |
| NC_000009.10:g.136873985G>A | NCBI36 |
| NG_008030.1:g.205513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*15G>A | ENSP00000360885.4:n.*15G>A | |
| ENST00000371817.8:c.*15G>A MANE Select | ENSP00000360882.3:n.*15G>A | |
| ENST00000371817.7:c.*15G>A | ENSP00000360882.3:n.*15G>A | |
| ENST00000618395.4:c.*15G>A | ENSP00000481360.1:n.*15G>A | |
| NM_000093.4:c.*15G>A | NP_000084.3:n.*15G>A | |
| NM_001278074.1:c.*15G>A | NP_001265003.1:n.*15G>A | |
| NR_103451.2:n.71-22109C>T | ||
| NM_000093.5:c.*15G>A MANE Select | NP_000084.3:n.*15G>A |