Linked Data
ClinVar Variation Id:
1597479
dbSNP Id:
rs558708604
gnomAD v2:
9-139399349-G-C
gnomAD v3:
9-136504897-G-C
gnomAD v4:
9-136504897-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504897G>C , CM000671.2:g.136504897G>C | GRCh38 |
| NC_000009.11:g.139399349G>C , CM000671.1:g.139399349G>C | GRCh37 |
| NC_000009.10:g.138519170G>C | NCBI36 |
| NG_007458.1:g.45890C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2601C>G | ||
| ENST00000651671.1:c.4794C>G MANE Select | ENSP00000498587.1:p.Arg1598= | |
| ENST00000679595.1:c.4794C>G | ENSP00000506241.1:p.Arg1598= | |
| ENST00000680133.1:c.4680C>G | ENSP00000505319.1:p.Arg1560= | |
| ENST00000680218.1:c.4674C>G | ENSP00000505339.1:p.Arg1558= | |
| ENST00000680668.1:c.4680C>G | ENSP00000506336.1:p.Arg1560= | |
| ENST00000680778.1:c.2391C>G | ENSP00000506033.1:p.Arg797= | |
| ENST00000680924.1:c.*2194C>G | ENSP00000506031.1:n.*2194C>G | |
| ENST00000681135.1:c.*2403C>G | ENSP00000506636.1:n.*2403C>G | |
| ENST00000681298.1:n.1607C>G | ||
| ENST00000681454.1:c.*4030C>G | ENSP00000505763.1:n.*4030C>G | |
| ENST00000277541.6:c.4794C>G | ENSP00000277541.6:p.Arg1598= | |
| NM_017617.3:c.4794C>G | NP_060087.3:p.Arg1598= | |
| XM_011518717.1:c.4095C>G | XP_011517019.1:p.Arg1365= | |
| NM_017617.5:c.4794C>G MANE Select | NP_060087.3:p.Arg1598= | |
| XM_011518717.2:c.4071C>G | XP_011517019.2:p.Arg1357= |