Linked Data
ClinVar Variation Id:
365738
ClinVar RCV Id:
RCV000301460
dbSNP Id:
rs533831376
gnomAD v2:
9-137734204-G-A
gnomAD v3:
9-134842358-G-A
gnomAD v4:
9-134842358-G-A
COSMIC:
COSN8296499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842358G>A , CM000671.2:g.134842358G>A | GRCh38 |
| NC_000009.11:g.137734204G>A , CM000671.1:g.137734204G>A | GRCh37 |
| NC_000009.10:g.136874025G>A | NCBI36 |
| NG_008030.1:g.205553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*55G>A | ENSP00000360885.4:n.*55G>A | |
| ENST00000371817.8:c.*55G>A MANE Select | ENSP00000360882.3:n.*55G>A | |
| ENST00000371817.7:c.*55G>A | ENSP00000360882.3:n.*55G>A | |
| ENST00000618395.4:c.*55G>A | ENSP00000481360.1:n.*55G>A | |
| NM_000093.4:c.*55G>A | NP_000084.3:n.*55G>A | |
| NM_001278074.1:c.*55G>A | NP_001265003.1:n.*55G>A | |
| NR_103451.2:n.71-22149C>T | ||
| NM_000093.5:c.*55G>A MANE Select | NP_000084.3:n.*55G>A |