Linked Data
ClinVar Variation Id:
2828997
ClinVar RCV Id:
RCV003610427
dbSNP Id:
rs1354321129
gnomAD v2:
9-34648311-C-T
gnomAD v3:
9-34648314-C-T
gnomAD v4:
9-34648314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648314C>T , CM000671.2:g.34648314C>T | GRCh38 |
| NC_000009.11:g.34648311C>T , CM000671.1:g.34648311C>T | GRCh37 |
| NC_000009.10:g.34638311C>T | NCBI36 |
| NG_009029.1:g.6677C>T | |
| NG_028966.1:g.1130C>T | |
| NG_009029.2:g.6726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*153-20C>T | ENSP00000509954.1:n.*153-20C>T | |
| ENST00000378842.8:c.565-20C>T MANE Select | ENSP00000368119.4:n.565-20C>T | |
| ENST00000378842.7:c.565-20C>T | ENSP00000368119.3:n.565-20C>T | |
| ENST00000450095.6:c.238-20C>T | ENSP00000401956.2:n.238-20C>T | |
| ENST00000472111.5:n.821-20C>T | ||
| ENST00000473506.6:c.*153-20C>T | ENSP00000432839.2:n.*153-20C>T | |
| ENST00000473529.5:n.724-20C>T | ||
| ENST00000485531.1:n.1159-20C>T | ||
| ENST00000487381.5:n.950-20C>T | ||
| ENST00000489643.6:n.340-20C>T | ||
| ENST00000554085.5:c.*309-20C>T | ENSP00000450419.1:n.*309-20C>T | |
| ENST00000554139.5:n.811-20C>T | ||
| ENST00000554550.5:c.*185-20C>T | ENSP00000451435.1:n.*185-20C>T | |
| ENST00000554638.5:n.1037-20C>T | ||
| ENST00000554897.5:c.*252-20C>T | ENSP00000450942.1:n.*252-20C>T | |
| ENST00000554944.5:n.914-20C>T | ||
| ENST00000555020.5:n.721-20C>T | ||
| ENST00000555086.5:n.569-20C>T | ||
| ENST00000555214.5:n.386-20C>T | ||
| ENST00000556244.1:c.552-20C>T | ||
| ENST00000556278.1:c.310-20C>T | ENSP00000451792.1:n.310-20C>T | |
| ENST00000556494.5:n.686-20C>T | ||
| ENST00000557706.5:n.1127-20C>T | ||
| NM_000155.3:c.565-20C>T | NP_000146.2:n.565-20C>T | |
| NM_001258332.1:c.238-20C>T | NP_001245261.1:n.238-20C>T | |
| NM_000155.4:c.565-20C>T MANE Select | NP_000146.2:n.565-20C>T | |
| NM_001258332.2:c.238-20C>T | NP_001245261.1:n.238-20C>T |