Linked Data
ClinVar Variation Id:
1064190
ClinVar RCV Id:
RCV001374130
dbSNP Id:
rs1438500444
gnomAD v3:
19-10354048-C-A
gnomAD v4:
19-10354048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10354048C>A , CM000681.2:g.10354048C>A | GRCh38 |
| NC_000019.9:g.10464724C>A , CM000681.1:g.10464724C>A | GRCh37 |
| NC_000019.8:g.10325724C>A | NCBI36 |
| NG_007872.1:g.31525G>T , LRG_121:g.31525G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1251G>T | ENSP00000514307.1:n.*1251G>T | |
| ENST00000525976.6:c.2902G>T | ENSP00000434831.2:p.Asp968Tyr | |
| ENST00000527481.3:c.2902G>T | ENSP00000466340.2:p.Asp968Tyr | |
| ENST00000529370.6:n.4278G>T | ||
| ENST00000529739.2:n.3316G>T | ||
| ENST00000530829.2:c.*2453G>T | ENSP00000436826.2:n.*2453G>T | |
| ENST00000531836.6:c.2902G>T | ENSP00000436175.2:p.Asp968Tyr | |
| ENST00000533334.2:c.*944G>T | ENSP00000432320.2:n.*944G>T | |
| ENST00000534228.2:n.4361G>T | ||
| ENST00000699354.1:n.1004G>T | ||
| ENST00000699355.1:c.*2007G>T | ENSP00000514328.1:n.*2007G>T | |
| ENST00000699356.1:n.3316G>T | ||
| ENST00000699357.1:n.4361G>T | ||
| ENST00000699358.1:c.2902G>T | ENSP00000514329.1:p.Asp968Tyr | |
| ENST00000699359.1:c.108G>T | ||
| ENST00000699360.1:c.2902G>T | ENSP00000514331.1:p.Asp968Tyr | |
| ENST00000699368.1:c.106G>T | ENSP00000514335.1:p.Asp36Tyr | |
| ENST00000525621.6:c.2902G>T MANE Select | ENSP00000431885.1:p.Asp968Tyr | |
| ENST00000264818.10:c.2902G>T | ENSP00000264818.6:p.Asp968Tyr | |
| ENST00000524462.5:c.2347G>T | ENSP00000433203.1:p.Asp783Tyr | |
| ENST00000525621.5:c.2902G>T | ENSP00000431885.1:p.Asp968Tyr | |
| ENST00000527481.2:c.198G>T | ||
| ENST00000529412.1:n.574G>T | ||
| ENST00000529739.1:c.-425G>T | ENSP00000436155.1:n.-425G>T | |
| ENST00000530560.5:c.331G>T | ENSP00000465291.1:p.Asp111Tyr | |
| ENST00000592137.1:n.56G>T | ||
| NM_003331.4:c.2902G>T , LRG_121t1:c.2902G>T | NP_003322.3:p.Asp968Tyr | |
| XM_011528245.1:c.2902G>T | XP_011526547.1:p.Asp968Tyr | |
| XM_011528246.1:c.2605G>T | XP_011526548.1:p.Asp869Tyr | |
| XM_011528247.1:c.2605G>T | XP_011526549.1:p.Asp869Tyr | |
| XM_011528248.1:c.2902G>T | XP_011526550.1:p.Asp968Tyr | |
| XM_011528249.1:c.1576G>T | XP_011526551.1:p.Asp526Tyr | |
| XM_011528251.1:c.1159G>T | XP_011526553.1:p.Asp387Tyr | |
| XM_011528246.3:c.2605G>T | XP_011526548.1:p.Asp869Tyr | |
| XM_011528249.2:c.1576G>T | XP_011526551.1:p.Asp526Tyr | |
| XR_001753750.1:n.3059G>T | ||
| XR_001753751.1:n.3059G>T | ||
| XR_002958353.1:n.3985G>T | ||
| NM_003331.5:c.2902G>T MANE Select | NP_003322.3:p.Asp968Tyr | |
| NM_001385197.1:c.2902G>T | NP_001372126.1:p.Asp968Tyr | |
| NM_001385198.1:c.2902G>T | NP_001372127.1:p.Asp968Tyr | |
| NM_001385199.1:c.2716G>T | NP_001372128.1:p.Asp906Tyr | |
| NM_001385200.1:c.2899G>T | NP_001372129.1:p.Asp967Tyr | |
| NM_001385201.1:c.2704G>T | NP_001372130.1:p.Asp902Tyr | |
| NM_001385202.1:c.2818G>T | NP_001372131.1:p.Asp940Tyr | |
| NM_001385203.1:c.2983G>T | NP_001372132.1:p.Asp995Tyr | |
| NM_001385204.1:c.3112G>T | NP_001372133.1:p.Asp1038Tyr | |
| NM_001385205.1:c.2812G>T | NP_001372134.1:p.Asp938Tyr | |
| NM_001385206.1:c.2776G>T | NP_001372135.1:p.Asp926Tyr | |
| NM_001385207.1:c.2884G>T | NP_001372136.1:p.Asp962Tyr |