Linked Data
ClinVar Variation Id:
219298
ClinVar RCV Id:
RCV000205201
dbSNP Id:
rs864622008
gnomAD v2:
18-61264314-C-T
gnomAD v3:
18-63597080-C-T
gnomAD v4:
18-63597080-C-T
COSMIC:
COSM5783187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63597080C>T , CM000680.2:g.63597080C>T | GRCh38 |
| NC_000018.9:g.61264314C>T , CM000680.1:g.61264314C>T | GRCh37 |
| NC_000018.8:g.59415294C>T | NCBI36 |
| NG_052858.1:g.14879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344731.10:c.893C>T MANE Select | ENSP00000341584.6:p.Ala298Val | |
| ENST00000269489.9:c.920C>T | ENSP00000269489.6:p.Ala307Val | |
| ENST00000344731.9:c.893C>T | ENSP00000341584.5:p.Ala298Val | |
| ENST00000415733.1:c.318+1896C>T | ENSP00000391156.1:n.318+1896C>T | |
| ENST00000438844.1:c.*605C>T | ENSP00000394592.1:n.*605C>T | |
| NM_001307923.1:c.920C>T | NP_001294852.1:p.Ala307Val | |
| NM_012397.3:c.893C>T | NP_036529.1:p.Ala298Val | |
| XM_005266707.2:c.485C>T | XP_005266764.1:p.Ala162Val | |
| XM_011526029.1:c.890C>T | XP_011524331.1:p.Ala297Val | |
| NM_001348267.1:c.485C>T | NP_001335196.1:p.Ala162Val | |
| NM_001348268.1:c.485C>T | NP_001335197.1:p.Ala162Val | |
| NM_001348269.1:c.356C>T | NP_001335198.1:p.Ala119Val | |
| NM_001348270.1:c.356C>T | NP_001335199.1:p.Ala119Val | |
| XM_011526029.3:c.890C>T | XP_011524331.1:p.Ala297Val | |
| NM_001348267.2:c.485C>T | NP_001335196.1:p.Ala162Val | |
| NM_001348268.2:c.485C>T | NP_001335197.1:p.Ala162Val | |
| NM_001348269.2:c.356C>T | NP_001335198.1:p.Ala119Val | |
| NM_001348270.2:c.356C>T | NP_001335199.1:p.Ala119Val | |
| NM_012397.4:c.893C>T MANE Select | NP_036529.1:p.Ala298Val | |
| NM_001307923.2:c.920C>T | NP_001294852.1:p.Ala307Val |