Linked Data
dbSNP Id:
rs963091265
gnomAD v2:
19-50333755-C-T
gnomAD v3:
19-49830498-C-T
gnomAD v4:
19-49830498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49830498C>T , CM000681.2:g.49830498C>T | GRCh38 |
| NC_000019.9:g.50333755C>T , CM000681.1:g.50333755C>T | GRCh37 |
| NC_000019.8:g.55025567C>T | NCBI36 |
| NG_017091.1:g.17220C>T , LRG_368:g.17220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.820-13C>T | ENSP00000470692.3:n.820-13C>T | |
| ENST00000312865.10:c.820-13C>T MANE Select | ENSP00000326767.5:n.820-13C>T | |
| ENST00000538643.5:c.181-13C>T | ENSP00000437496.1:n.181-13C>T | |
| ENST00000595185.5:c.688+550C>T | ENSP00000470027.1:n.688+550C>T | |
| ENST00000612791.4:c.761+336C>T | ENSP00000479851.1:n.761+336C>T | |
| ENST00000612854.4:c.450+1483C>T | ENSP00000482155.1:n.450+1483C>T | |
| ENST00000617849.4:c.158-241C>T | ENSP00000484882.1:n.158-241C>T | |
| ENST00000618715.4:c.158-240C>T | ENSP00000480731.1:n.158-240C>T | |
| ENST00000620467.4:c.820-13C>T | ENSP00000482659.1:n.820-13C>T | |
| ENST00000622402.4:c.146-5329C>T | ENSP00000478074.1:n.146-5329C>T | |
| NM_030973.3:c.820-13C>T , LRG_368t1:c.820-13C>T | NP_112235.2:n.820-13C>T | |
| XM_011527353.1:c.820-13C>T | XP_011525655.1:n.820-13C>T | |
| NM_001378355.1:c.820-13C>T | NP_001365284.1:n.820-13C>T | |
| NM_030973.4:c.820-13C>T MANE Select | NP_112235.2:n.820-13C>T |