Linked Data
ClinVar Variation Id:
786
ClinVar RCV Id:
RCV000000822
RCV000170923
RCV000234995
RCV000244771
RCV000614172
RCV000638732
RCV001192631
RCV003318331
dbSNP Id:
rs72552291
ExAC:
3:32200588 C / T
gnomAD v2:
3-32200588-C-T
gnomAD v3:
3-32159096-C-T
gnomAD v4:
3-32159096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32159096C>T , CM000665.2:g.32159096C>T | GRCh38 |
| NC_000003.11:g.32200588C>T , CM000665.1:g.32200588C>T | GRCh37 |
| NC_000003.10:g.32175592C>T | NCBI36 |
| NG_023375.1:g.57586C>T , LRG_419:g.57586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.839C>T MANE Select | ENSP00000282541.6:p.Ala280Val | |
| ENST00000282541.9:c.839C>T | ENSP00000282541.5:p.Ala280Val | |
| ENST00000428684.1:c.*466C>T | ENSP00000392199.1:n.*466C>T | |
| ENST00000474846.5:n.763C>T | ||
| ENST00000496151.1:n.340C>T | ||
| NM_015141.3:c.839C>T , LRG_419t1:c.839C>T | NP_055956.1:p.Ala280Val | |
| XM_005264983.2:c.619-472C>T | XP_005265040.1:n.619-472C>T | |
| XM_006713068.2:c.698C>T | XP_006713131.1:p.Ala233Val | |
| NM_015141.4:c.839C>T MANE Select | NP_055956.1:p.Ala280Val |