Linked Data
ClinVar Variation Id:
2051199
ClinVar RCV Id:
RCV002904768
dbSNP Id:
rs147216418
ExAC:
17:4855158 T / C
gnomAD v2:
17-4855158-T-C
gnomAD v3:
17-4951863-T-C
gnomAD v4:
17-4951863-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4951863T>C , CM000679.2:g.4951863T>C | GRCh38 |
| NC_000017.10:g.4855158T>C , CM000679.1:g.4855158T>C | GRCh37 |
| NC_000017.9:g.4795903T>C | NCBI36 |
| NG_012063.2:g.10773T>C | |
| NG_032945.1:g.2224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.34T>C MANE Select | ENSP00000430055.2:p.Leu12= | |
| ENST00000323997.10:c.34T>C | ENSP00000324105.6:p.Leu12= | |
| ENST00000518175.1:c.34T>C | ENSP00000431087.1:p.Leu12= | |
| ENST00000518972.5:n.100T>C | ||
| ENST00000519266.5:c.34T>C | ENSP00000467270.1:p.Leu12= | |
| ENST00000519300.1:n.120T>C | ||
| ENST00000519584.5:c.34T>C | ENSP00000430636.1:p.Leu12= | |
| ENST00000519602.5:c.34T>C | ENSP00000430055.1:p.Leu12= | |
| ENST00000519834.5:n.100T>C | ||
| ENST00000520221.5:c.34T>C | ENSP00000467444.1:p.Leu12= | |
| ENST00000521659.5:c.34T>C | ENSP00000430554.1:p.Leu12= | |
| ENST00000521811.5:c.34T>C | ENSP00000464874.1:p.Leu12= | |
| ENST00000522249.5:c.34T>C | ENSP00000428811.1:p.Leu12= | |
| ENST00000522301.5:c.34T>C | ENSP00000465697.1:p.Leu12= | |
| ENST00000522798.5:c.34T>C | ENSP00000428502.1:p.Leu12= | |
| ENST00000571235.5:n.100T>C | ||
| NM_001193503.1:c.34T>C | NP_001180432.1:p.Leu12= | |
| NM_001976.4:c.34T>C | NP_001967.3:p.Leu12= | |
| NM_053013.3:c.34T>C | NP_443739.3:p.Leu12= | |
| XM_005256521.2:c.61T>C | XP_005256578.1:p.Leu21= | |
| XM_011523729.1:c.34T>C | XP_011522031.1:p.Leu12= | |
| XM_017024346.2:c.34T>C | XP_016879835.1:p.Leu12= | |
| NM_001193503.2:c.34T>C | NP_001180432.1:p.Leu12= | |
| NM_001374523.1:c.34T>C | NP_001361452.1:p.Leu12= | |
| NM_001374524.1:c.61T>C | NP_001361453.1:p.Leu21= | |
| NM_001976.5:c.34T>C | NP_001967.3:p.Leu12= | |
| NM_053013.4:c.34T>C MANE Select | NP_443739.3:p.Leu12= |