Linked Data
ClinVar Variation Id:
353876
dbSNP Id:
rs2233217
ExAC:
5:52397270 G / A
gnomAD v2:
5-52397270-G-A
gnomAD v3:
5-53101440-G-A
gnomAD v4:
5-53101440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53101440G>A , CM000667.2:g.53101440G>A | GRCh38 |
| NC_000005.9:g.52397270G>A , CM000667.1:g.52397270G>A | GRCh37 |
| NC_000005.8:g.52433027G>A | NCBI36 |
| NG_008435.2:g.13329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.296C>T MANE Select | ENSP00000380157.3:p.Ala99Val | |
| ENST00000450852.8:c.*216C>T MANE Plus Clinical | ENSP00000411022.3:n.*216C>T | |
| ENST00000361377.8:c.*146+657C>T | ENSP00000355160.4:n.*146+657C>T | |
| ENST00000396954.7:c.296C>T | ENSP00000380157.3:p.Ala99Val | |
| ENST00000450852.7:c.*216C>T | ENSP00000411022.3:n.*216C>T | |
| ENST00000502402.5:n.1219C>T | ||
| ENST00000508922.5:c.*216C>T | ENSP00000426274.1:n.*216C>T | |
| ENST00000510818.6:c.*216C>T | ENSP00000424267.2:n.*216C>T | |
| ENST00000514553.2:n.481C>T | ||
| ENST00000527216.5:c.*216C>T | ENSP00000435326.1:n.*216C>T | |
| ENST00000582677.5:c.*19-906C>T | ENSP00000462870.1:n.*19-906C>T | |
| ENST00000584946.5:c.*88C>T | ENSP00000464663.1:n.*88C>T | |
| NM_004531.4:c.296C>T | NP_004522.1:p.Ala99Val | |
| NM_176806.3:c.*216C>T | NP_789776.1:n.*216C>T | |
| NM_004531.5:c.296C>T MANE Select | NP_004522.1:p.Ala99Val | |
| NM_176806.4:c.*216C>T MANE Plus Clinical | NP_789776.1:n.*216C>T |