Linked Data
ClinVar Variation Id:
365636
dbSNP Id:
rs886063657
gnomAD v2:
9-136505035-T-C
gnomAD v4:
9-133639913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133639913T>C , CM000671.2:g.133639913T>C | GRCh38 |
| NC_000009.11:g.136505035T>C , CM000671.1:g.136505035T>C | GRCh37 |
| NC_000009.10:g.135494856T>C | NCBI36 |
| NG_008645.1:g.8551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263611.3:c.334-2294T>C | ENSP00000263611.3:n.334-2294T>C | |
| ENST00000393056.8:c.407T>C MANE Select | ENSP00000376776.2:p.Val136Ala | |
| ENST00000263611.2:c.298-2294T>C | ENSP00000263611.2:n.298-2294T>C | |
| ENST00000393056.6:c.407T>C | ENSP00000376776.2:p.Val136Ala | |
| NM_000787.3:c.407T>C | NP_000778.3:p.Val136Ala | |
| NM_000787.4:c.407T>C MANE Select | NP_000778.3:p.Val136Ala |