Linked Data
dbSNP Id:
rs758435939
ExAC:
5:52394514 T / C
gnomAD v2:
5-52394514-T-C
gnomAD v4:
5-53098684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53098684T>C , CM000667.2:g.53098684T>C | GRCh38 |
| NC_000005.9:g.52394514T>C , CM000667.1:g.52394514T>C | GRCh37 |
| NC_000005.8:g.52430271T>C | NCBI36 |
| NG_008435.2:g.16085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.502-17A>G MANE Select | ENSP00000380157.3:n.502-17A>G | |
| ENST00000450852.8:c.*422-17A>G MANE Plus Clinical | ENSP00000411022.3:n.*422-17A>G | |
| ENST00000361377.8:c.*271-17A>G | ENSP00000355160.4:n.*271-17A>G | |
| ENST00000396954.7:c.502-17A>G | ENSP00000380157.3:n.502-17A>G | |
| ENST00000450852.7:c.*422-17A>G | ENSP00000411022.3:n.*422-17A>G | |
| ENST00000502402.5:n.2249-17A>G | ||
| ENST00000508922.5:c.*325A>G | ENSP00000426274.1:n.*325A>G | |
| ENST00000510818.6:c.*375-17A>G | ENSP00000424267.2:n.*375-17A>G | |
| ENST00000582677.5:c.*143-17A>G | ENSP00000462870.1:n.*143-17A>G | |
| ENST00000584946.5:c.*294-17A>G | ENSP00000464663.1:n.*294-17A>G | |
| NM_004531.4:c.502-17A>G | NP_004522.1:n.502-17A>G | |
| NM_176806.3:c.*422-17A>G | NP_789776.1:n.*422-17A>G | |
| NM_004531.5:c.502-17A>G MANE Select | NP_004522.1:n.502-17A>G | |
| NM_176806.4:c.*422-17A>G MANE Plus Clinical | NP_789776.1:n.*422-17A>G |