Linked Data
ClinVar Variation Id:
733896
dbSNP Id:
rs375612664
ExAC:
19:41077917 C / T
gnomAD v2:
19-41077917-C-T
gnomAD v3:
19-40572011-C-T
gnomAD v4:
19-40572011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40572011C>T , CM000681.2:g.40572011C>T | GRCh38 |
| NC_000019.9:g.41077917C>T , CM000681.1:g.41077917C>T | GRCh37 |
| NC_000019.8:g.45769757C>T | NCBI36 |
| NG_029905.1:g.109792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598249.6:c.7320-8C>T MANE Select | ENSP00000469242.1:n.7320-8C>T | |
| ENST00000338932.7:c.7320-8C>T | ENSP00000340345.4:n.7320-8C>T | |
| ENST00000352632.7:c.7320-8C>T | ENSP00000263373.2:n.7320-8C>T | |
| ENST00000392025.5:c.7320-8C>T | ENSP00000375879.2:n.7320-8C>T | |
| ENST00000593816.1:n.49-8C>T | ||
| ENST00000595690.1:n.372C>T | ||
| ENST00000596411.1:n.468C>T | ||
| ENST00000597389.5:c.5582-8C>T | ENSP00000472136.1:n.5582-8C>T | |
| ENST00000598249.5:c.7320-8C>T | ENSP00000469242.1:n.7320-8C>T | |
| ENST00000599926.5:n.56-8C>T | ||
| NM_020971.2:c.7320-8C>T | NP_066022.2:n.7320-8C>T | |
| XM_011527172.1:c.7320-8C>T | XP_011525474.1:n.7320-8C>T | |
| XM_011527173.1:c.7027-8C>T | XP_011525475.1:n.7027-8C>T | |
| XM_011527173.2:c.7027-8C>T | XP_011525475.1:n.7027-8C>T | |
| XM_017027049.1:c.7320-8C>T | XP_016882538.1:n.7320-8C>T | |
| XM_017027050.1:c.6978-8C>T | XP_016882539.1:n.6978-8C>T | |
| NM_020971.3:c.7320-8C>T MANE Select | NP_066022.2:n.7320-8C>T |