Linked Data
dbSNP Id:
rs1283565152
gnomAD v2:
9-137726984-C-A
gnomAD v4:
9-134835138-C-A
COSMIC:
COSM3952470
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835138C>A , CM000671.2:g.134835138C>A | GRCh38 |
| NC_000009.11:g.137726984C>A , CM000671.1:g.137726984C>A | GRCh37 |
| NC_000009.10:g.136866805C>A | NCBI36 |
| NG_008030.1:g.198333C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5304C>A | ENSP00000360885.4:p.Gly1768= | |
| ENST00000371817.8:c.5304C>A MANE Select | ENSP00000360882.3:p.Gly1768= | |
| ENST00000371817.7:c.5304C>A | ENSP00000360882.3:p.Gly1768= | |
| ENST00000371820.3:c.562C>A | ||
| ENST00000618395.4:c.5304C>A | ENSP00000481360.1:p.Gly1768= | |
| NM_000093.4:c.5304C>A | NP_000084.3:p.Gly1768= | |
| NM_001278074.1:c.5304C>A | NP_001265003.1:p.Gly1768= | |
| NR_103451.2:n.71-14929G>T | ||
| NM_000093.5:c.5304C>A MANE Select | NP_000084.3:p.Gly1768= |