Linked Data
ClinVar Variation Id:
365923
ClinVar RCV Id:
RCV000358360
dbSNP Id:
rs372408400
ExAC:
9:139569244 C / T
gnomAD v2:
9-139569244-C-T
gnomAD v3:
9-136674792-C-T
gnomAD v4:
9-136674792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674792C>T , CM000671.2:g.136674792C>T | GRCh38 |
| NC_000009.11:g.139569244C>T , CM000671.1:g.139569244C>T | GRCh37 |
| NC_000009.10:g.138689065C>T | NCBI36 |
| NG_008090.1:g.17668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.604G>A MANE Select | ENSP00000360761.2:p.Val202Met | |
| ENST00000371694.7:c.508G>A | ENSP00000360759.3:p.Val170Met | |
| ENST00000371696.6:c.604G>A | ENSP00000360761.2:p.Val202Met | |
| ENST00000472820.1:n.532G>A | ||
| ENST00000538402.1:c.604G>A | ENSP00000438919.1:p.Val202Met | |
| NM_001012727.1:c.508G>A | NP_001012745.1:p.Val170Met | |
| NM_006412.3:c.604G>A | NP_006403.2:p.Val202Met | |
| NM_006412.4:c.604G>A MANE Select | NP_006403.2:p.Val202Met | |
| NM_001012727.2:c.508G>A | NP_001012745.1:p.Val170Met |