Linked Data
ClinVar Variation Id:
1906095
ClinVar RCV Id:
RCV002584003
dbSNP Id:
rs777947269
gnomAD v2:
9-139399382-G-C
gnomAD v3:
9-136504930-G-C
gnomAD v4:
9-136504930-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504930G>C , CM000671.2:g.136504930G>C | GRCh38 |
| NC_000009.11:g.139399382G>C , CM000671.1:g.139399382G>C | GRCh37 |
| NC_000009.10:g.138519203G>C | NCBI36 |
| NG_007458.1:g.45857C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2568C>G | ||
| ENST00000651671.1:c.4761C>G MANE Select | ENSP00000498587.1:p.Asn1587Lys | |
| ENST00000679595.1:c.4761C>G | ENSP00000506241.1:p.Asn1587Lys | |
| ENST00000680133.1:c.4647C>G | ENSP00000505319.1:p.Asn1549Lys | |
| ENST00000680218.1:c.4641C>G | ENSP00000505339.1:p.Asn1547Lys | |
| ENST00000680668.1:c.4647C>G | ENSP00000506336.1:p.Asn1549Lys | |
| ENST00000680778.1:c.2358C>G | ENSP00000506033.1:p.Asn786Lys | |
| ENST00000680924.1:c.*2161C>G | ENSP00000506031.1:n.*2161C>G | |
| ENST00000681135.1:c.*2370C>G | ENSP00000506636.1:n.*2370C>G | |
| ENST00000681298.1:n.1574C>G | ||
| ENST00000681454.1:c.*3997C>G | ENSP00000505763.1:n.*3997C>G | |
| ENST00000277541.6:c.4761C>G | ENSP00000277541.6:p.Asn1587Lys | |
| NM_017617.3:c.4761C>G | NP_060087.3:p.Asn1587Lys | |
| XM_011518717.1:c.4062C>G | XP_011517019.1:p.Asn1354Lys | |
| NM_017617.5:c.4761C>G MANE Select | NP_060087.3:p.Asn1587Lys | |
| XM_011518717.2:c.4038C>G | XP_011517019.2:p.Asn1346Lys |