Linked Data
ClinVar Variation Id:
1330797
ClinVar RCV Id:
RCV001802456
dbSNP Id:
rs111033728
gnomAD v4:
9-34648353-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648353T>G , CM000671.2:g.34648353T>G | GRCh38 |
| NC_000009.11:g.34648350T>G , CM000671.1:g.34648350T>G | GRCh37 |
| NC_000009.10:g.34638350T>G | NCBI36 |
| NG_009029.1:g.6716T>G | |
| NG_028966.1:g.1169T>G | |
| NG_009029.2:g.6765T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*172T>G | ENSP00000509954.1:n.*172T>G | |
| ENST00000378842.8:c.584T>G MANE Select | ENSP00000368119.4:p.Leu195Arg | |
| ENST00000378842.7:c.584T>G | ENSP00000368119.3:p.Leu195Arg | |
| ENST00000450095.6:c.257T>G | ENSP00000401956.2:p.Leu86Arg | |
| ENST00000472111.5:n.840T>G | ||
| ENST00000473506.6:c.*172T>G | ENSP00000432839.2:n.*172T>G | |
| ENST00000473529.5:n.743T>G | ||
| ENST00000485531.1:n.1178T>G | ||
| ENST00000487381.5:n.969T>G | ||
| ENST00000489643.6:n.359T>G | ||
| ENST00000554085.5:c.*328T>G | ENSP00000450419.1:n.*328T>G | |
| ENST00000554139.5:n.830T>G | ||
| ENST00000554550.5:c.*204T>G | ENSP00000451435.1:n.*204T>G | |
| ENST00000554638.5:n.1056T>G | ||
| ENST00000554897.5:c.*271T>G | ENSP00000450942.1:n.*271T>G | |
| ENST00000554944.5:n.933T>G | ||
| ENST00000555020.5:n.740T>G | ||
| ENST00000555086.5:n.588T>G | ||
| ENST00000555214.5:n.405T>G | ||
| ENST00000556244.1:c.571T>G | ||
| ENST00000556278.1:c.329T>G | ENSP00000451792.1:p.Leu110Arg | |
| ENST00000556494.5:n.705T>G | ||
| ENST00000557706.5:n.1146T>G | ||
| NM_000155.3:c.584T>G | NP_000146.2:p.Leu195Arg | |
| NM_001258332.1:c.257T>G | NP_001245261.1:p.Leu86Arg | |
| NM_000155.4:c.584T>G MANE Select | NP_000146.2:p.Leu195Arg | |
| NM_001258332.2:c.257T>G | NP_001245261.1:p.Leu86Arg |