Linked Data
ClinVar Variation Id:
137155
dbSNP Id:
rs506121
ExAC:
9:271638 C / T
gnomAD v2:
9-271638-C-T
gnomAD v3:
9-271638-C-T
gnomAD v4:
9-271638-C-T
COSMIC:
COSM3982814
PubMed:
PMID:26680607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.271638C>T , CM000671.2:g.271638C>T | GRCh38 |
| NC_000009.11:g.271638C>T , CM000671.1:g.271638C>T | GRCh37 |
| NC_000009.10:g.261638C>T | NCBI36 |
| NG_017007.1:g.61774C>T , LRG_196:g.61774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.-140C>T | ENSP00000371766.2:n.-140C>T | |
| ENST00000682121.1:n.166-14823C>T | ||
| ENST00000684166.1:n.174C>T | ||
| ENST00000684384.1:n.174C>T | ||
| ENST00000432829.7:c.65C>T MANE Select | ENSP00000394888.3:p.Ala22Val | |
| ENST00000432829.6:c.65C>T | ENSP00000394888.3:p.Ala22Val | |
| ENST00000454469.6:n.174C>T | ||
| ENST00000469197.5:c.65C>T | ENSP00000418587.1:p.Ala22Val | |
| ENST00000479404.5:c.-140C>T | ENSP00000417082.1:n.-140C>T | |
| ENST00000524396.5:c.*28C>T | ENSP00000436628.1:n.*28C>T | |
| NM_203447.3:c.65C>T , LRG_196t1:c.65C>T | NP_982272.2:p.Ala22Val | |
| XM_011518045.1:c.-140C>T | XP_011516347.1:n.-140C>T | |
| XM_011518047.1:c.-140C>T | XP_011516349.1:n.-140C>T | |
| XR_929404.1:n.88+1267G>A | ||
| XR_929406.1:n.1333+2646G>A | ||
| XM_011518045.3:c.-140C>T | XP_011516347.1:n.-140C>T | |
| XM_011518047.3:c.-140C>T | XP_011516349.1:n.-140C>T | |
| XM_017015173.1:c.-140C>T | XP_016870662.1:n.-140C>T | |
| NM_203447.4:c.65C>T MANE Select | NP_982272.2:p.Ala22Val |