Linked Data
ClinVar Variation Id:
136361
ClinVar RCV Id:
RCV000123606
dbSNP Id:
rs2228093
ExAC:
9:38396002 C / T
gnomAD v2:
9-38396002-C-T
gnomAD v3:
9-38396005-C-T
gnomAD v4:
9-38396005-C-T
COSMIC:
COSM3763942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396005C>T , CM000671.2:g.38396005C>T | GRCh38 |
| NC_000009.11:g.38396002C>T , CM000671.1:g.38396002C>T | GRCh37 |
| NC_000009.10:g.38386002C>T | NCBI36 |
| NG_012253.1:g.8301C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377698.4:c.257C>T MANE Select | ENSP00000366927.3:p.Ala86Val | |
| ENST00000377698.3:c.257C>T | ENSP00000366927.3:p.Ala86Val | |
| ENST00000635162.1:c.257C>T | ENSP00000489053.1:p.Ala86Val | |
| NM_000692.4:c.257C>T | NP_000683.3:p.Ala86Val | |
| XM_011517802.1:c.257C>T | XP_011516104.1:p.Ala86Val | |
| XM_011517802.2:c.257C>T | XP_011516104.1:p.Ala86Val | |
| NM_000692.5:c.257C>T MANE Select | NP_000683.3:p.Ala86Val |