Linked Data
ClinVar Variation Id:
327965
ClinVar RCV Id:
RCV000347381
dbSNP Id:
rs280500
gnomAD v2:
19-10490402-A-G
gnomAD v3:
19-10379726-A-G
gnomAD v4:
19-10379726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10379726A>G , CM000681.2:g.10379726A>G | GRCh38 |
| NC_000019.9:g.10490402A>G , CM000681.1:g.10490402A>G | GRCh37 |
| NC_000019.8:g.10351402A>G | NCBI36 |
| NG_007872.1:g.5847T>C , LRG_121:g.5847T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.-132T>C | ENSP00000514307.1:n.-132T>C | |
| ENST00000525976.6:c.-132T>C | ENSP00000434831.2:n.-132T>C | |
| ENST00000527481.3:c.-132T>C | ENSP00000466340.2:n.-132T>C | |
| ENST00000529370.6:n.200T>C | ||
| ENST00000529739.2:n.283T>C | ||
| ENST00000530829.2:c.-132T>C | ENSP00000436826.2:n.-132T>C | |
| ENST00000531836.6:c.-95-37T>C | ENSP00000436175.2:n.-95-37T>C | |
| ENST00000533334.2:c.-132T>C | ENSP00000432320.2:n.-132T>C | |
| ENST00000534228.2:n.283T>C | ||
| ENST00000699355.1:c.-132T>C | ENSP00000514328.1:n.-132T>C | |
| ENST00000699356.1:n.283T>C | ||
| ENST00000699357.1:n.283T>C | ||
| ENST00000699358.1:c.-132T>C | ENSP00000514329.1:n.-132T>C | |
| ENST00000699360.1:c.-132T>C | ENSP00000514331.1:n.-132T>C | |
| ENST00000699369.1:n.212T>C | ||
| ENST00000699370.1:n.234T>C | ||
| ENST00000699371.1:c.-132T>C | ENSP00000514336.1:n.-132T>C | |
| ENST00000525621.6:c.-132T>C MANE Select | ENSP00000431885.1:n.-132T>C | |
| ENST00000524462.5:c.-91+784T>C | ENSP00000433203.1:n.-91+784T>C | |
| ENST00000525621.5:c.-132T>C | ENSP00000431885.1:n.-132T>C | |
| ENST00000529370.5:c.-132T>C | ENSP00000432728.1:n.-132T>C | |
| ENST00000530829.1:c.-132T>C | ENSP00000436826.1:n.-132T>C | |
| ENST00000531836.5:c.-95-37T>C | ENSP00000436175.1:n.-95-37T>C | |
| NM_003331.4:c.-132T>C , LRG_121t1:c.-132T>C | NP_003322.3:n.-132T>C | |
| XM_011528245.1:c.-95-37T>C | XP_011526547.1:n.-95-37T>C | |
| XM_011528248.1:c.-132T>C | XP_011526550.1:n.-132T>C | |
| XM_011528250.1:c.-132T>C | XP_011526552.1:n.-132T>C | |
| XM_011528252.1:c.-132T>C | XP_011526554.1:n.-132T>C | |
| XR_001753750.1:n.26T>C | ||
| XR_001753751.1:n.26T>C | ||
| XR_001753752.1:n.26T>C | ||
| XR_002958353.1:n.26T>C | ||
| NM_003331.5:c.-132T>C MANE Select | NP_003322.3:n.-132T>C | |
| NM_001385197.1:c.-132T>C | NP_001372126.1:n.-132T>C | |
| NM_001385198.1:c.-132T>C | NP_001372127.1:n.-132T>C | |
| NM_001385199.1:c.-95-37T>C | NP_001372128.1:n.-95-37T>C | |
| NM_001385200.1:c.-132T>C | NP_001372129.1:n.-132T>C | |
| NM_001385201.1:c.-132T>C | NP_001372130.1:n.-132T>C | |
| NM_001385202.1:c.-132T>C | NP_001372131.1:n.-132T>C | |
| NM_001385203.1:c.-132T>C | NP_001372132.1:n.-132T>C | |
| NM_001385204.1:c.-132T>C | NP_001372133.1:n.-132T>C | |
| NM_001385205.1:c.-132T>C | NP_001372134.1:n.-132T>C | |
| NM_001385206.1:c.-132T>C | NP_001372135.1:n.-132T>C | |
| NM_001385207.1:c.-132T>C | NP_001372136.1:n.-132T>C |