Linked Data
ClinVar Variation Id:
3152126
ClinVar RCV Id:
RCV004441061
dbSNP Id:
rs1402527660
gnomAD v2:
20-35672521-C-A
gnomAD v3:
20-37044118-C-A
gnomAD v4:
20-37044118-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37044118C>A , CM000682.2:g.37044118C>A | GRCh38 |
| NC_000020.10:g.35672521C>A , CM000682.1:g.35672521C>A | GRCh37 |
| NC_000020.9:g.35105935C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373664.8:c.1738G>T MANE Select | ENSP00000362768.3:p.Val580Phe | |
| ENST00000344359.7:c.1738G>T | ENSP00000343646.3:p.Val580Phe | |
| ENST00000373664.7:c.1738G>T | ENSP00000362768.3:p.Val580Phe | |
| NM_002895.3:c.1738G>T | NP_002886.2:p.Val580Phe | |
| NM_183404.2:c.1738G>T | NP_899662.1:p.Val580Phe | |
| XM_006723842.1:c.1222G>T | XP_006723905.1:p.Val408Phe | |
| XM_011528955.1:c.1738G>T | XP_011527257.1:p.Val580Phe | |
| XM_011528956.1:c.1501G>T | XP_011527258.1:p.Val501Phe | |
| XM_011528957.1:c.1426G>T | XP_011527259.1:p.Val476Phe | |
| XM_011528958.1:c.1738G>T | XP_011527260.1:p.Val580Phe | |
| XM_011528959.1:c.457G>T | XP_011527261.1:p.Val153Phe | |
| NM_001323281.1:c.457G>T | NP_001310210.1:p.Val153Phe | |
| NM_001323282.1:c.457G>T | NP_001310211.1:p.Val153Phe | |
| NM_002895.4:c.1738G>T | NP_002886.2:p.Val580Phe | |
| NM_183404.3:c.1738G>T | NP_899662.1:p.Val580Phe | |
| XM_006723842.3:c.1222G>T | XP_006723905.1:p.Val408Phe | |
| XM_017027992.1:c.1426G>T | XP_016883481.1:p.Val476Phe | |
| XM_024451956.1:c.1849G>T | XP_024307724.1:p.Val617Phe | |
| XM_024451957.1:c.1849G>T | XP_024307725.1:p.Val617Phe | |
| XM_024451958.1:c.1849G>T | XP_024307726.1:p.Val617Phe | |
| NM_001323281.2:c.457G>T | NP_001310210.1:p.Val153Phe | |
| NM_001323282.2:c.457G>T | NP_001310211.1:p.Val153Phe | |
| NM_002895.5:c.1738G>T MANE Select | NP_002886.2:p.Val580Phe | |
| NM_183404.4:c.1738G>T | NP_899662.1:p.Val580Phe |