Linked Data
ClinVar Variation Id:
569809
dbSNP Id:
rs547726489
ExAC:
4:128841897 C / T
gnomAD v2:
4-128841897-C-T
gnomAD v3:
4-127920742-C-T
gnomAD v4:
4-127920742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127920742C>T , CM000666.2:g.127920742C>T | GRCh38 |
| NC_000004.11:g.128841897C>T , CM000666.1:g.128841897C>T | GRCh37 |
| NC_000004.10:g.129061347C>T | NCBI36 |
| NG_008657.1:g.50243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1445G>A | ENSP00000296468.3:p.Arg482Gln | |
| ENST00000509826.2:c.*766G>A | ENSP00000421176.2:n.*766G>A | |
| ENST00000513559.6:c.1163G>A | ENSP00000425000.2:p.Arg388Gln | |
| ENST00000515130.6:c.*330G>A | ENSP00000493056.1:n.*330G>A | |
| ENST00000641025.1:c.*330G>A | ENSP00000493346.1:n.*330G>A | |
| ENST00000641092.1:c.*330G>A | ENSP00000493392.1:n.*330G>A | |
| ENST00000641133.1:c.*1446G>A | ENSP00000493192.1:n.*1446G>A | |
| ENST00000641146.1:n.1998G>A | ||
| ENST00000641147.1:c.995G>A | ENSP00000493133.1:p.Arg332Gln | |
| ENST00000641178.1:c.1310G>A | ENSP00000492989.1:p.Arg437Gln | |
| ENST00000641186.1:c.1331G>A | ENSP00000493347.1:p.Arg444Gln | |
| ENST00000641228.1:c.*1017G>A | ENSP00000493194.1:n.*1017G>A | |
| ENST00000641332.1:c.*587G>A | ENSP00000493397.1:n.*587G>A | |
| ENST00000641340.1:c.*1261G>A | ENSP00000493191.1:n.*1261G>A | |
| ENST00000641388.1:n.692G>A | ||
| ENST00000641393.1:c.995G>A | ENSP00000493197.1:p.Arg332Gln | |
| ENST00000641397.1:c.*330G>A | ENSP00000493406.1:n.*330G>A | |
| ENST00000641413.1:c.370G>A | ||
| ENST00000641434.1:c.1445G>A | ENSP00000493279.1:p.Arg482Gln | |
| ENST00000641464.1:c.*678G>A | ENSP00000493438.1:n.*678G>A | |
| ENST00000641482.1:c.*1017G>A | ENSP00000493277.1:n.*1017G>A | |
| ENST00000641508.1:c.*678G>A | ENSP00000493209.1:n.*678G>A | |
| ENST00000641509.1:c.1130G>A | ENSP00000493459.1:p.Arg377Gln | |
| ENST00000641590.1:c.*1017G>A | ENSP00000493132.1:n.*1017G>A | |
| ENST00000641658.1:c.*610G>A | ENSP00000492987.1:n.*610G>A | |
| ENST00000641686.2:c.1445G>A MANE Select | ENSP00000493218.2:p.Arg482Gln | |
| ENST00000641690.1:c.1244G>A | ENSP00000492966.1:p.Arg415Gln | |
| ENST00000641742.1:c.*610G>A | ENSP00000493315.1:n.*610G>A | |
| ENST00000641748.1:c.1445G>A | ENSP00000493330.1:p.Arg482Gln | |
| ENST00000641753.1:c.1272G>A | ||
| ENST00000641774.1:c.*697G>A | ENSP00000492960.1:n.*697G>A | |
| ENST00000641843.1:c.*506G>A | ENSP00000493174.1:n.*506G>A | |
| ENST00000641869.1:c.646G>A | ||
| ENST00000641870.1:c.*1193G>A | ENSP00000493044.1:n.*1193G>A | |
| ENST00000641882.1:c.*610G>A | ENSP00000493301.1:n.*610G>A | |
| ENST00000641928.1:c.*574G>A | ENSP00000493418.1:n.*574G>A | |
| ENST00000641949.1:c.648G>A | ENSP00000492891.1:p.Thr216= | |
| ENST00000642012.1:n.1309G>A | ||
| ENST00000642034.1:c.*330G>A | ENSP00000493285.1:n.*330G>A | |
| ENST00000642042.1:c.*764G>A | ENSP00000493260.1:n.*764G>A | |
| ENST00000642078.1:c.*506G>A | ENSP00000492885.1:n.*506G>A | |
| ENST00000296468.7:c.1445G>A | ENSP00000296468.3:p.Arg482Gln | |
| ENST00000513559.5:c.1310G>A | ENSP00000425000.1:p.Arg437Gln | |
| ENST00000515130.5:n.1787G>A | ||
| NM_152778.2:c.1445G>A | NP_689991.1:p.Arg482Gln | |
| XM_005262893.1:c.1445G>A | XP_005262950.1:p.Arg482Gln | |
| XM_005262896.1:c.1298G>A | XP_005262953.1:p.Arg433Gln | |
| XM_005262897.1:c.1244G>A | XP_005262954.1:p.Arg415Gln | |
| XM_005262898.2:c.*1017G>A | XP_005262955.1:n.*1017G>A | |
| XM_011531830.1:c.1331G>A | XP_011530132.1:p.Arg444Gln | |
| XM_011531831.1:c.1130G>A | XP_011530133.1:p.Arg377Gln | |
| XM_011531832.1:c.*1017G>A | XP_011530134.1:n.*1017G>A | |
| NM_001363520.1:c.1244G>A | NP_001350449.1:p.Arg415Gln | |
| NM_001363521.1:c.1130G>A | NP_001350450.1:p.Arg377Gln | |
| XM_005262898.3:c.*1017G>A | XP_005262955.1:n.*1017G>A | |
| XM_017007989.1:c.*1017G>A | XP_016863478.1:n.*1017G>A | |
| XM_024453981.1:c.1310G>A | XP_024309749.1:p.Arg437Gln | |
| XM_024453982.1:c.1196G>A | XP_024309750.1:p.Arg399Gln | |
| XM_024453983.1:c.995G>A | XP_024309751.1:p.Arg332Gln | |
| XR_001741194.1:n.1418G>A | ||
| XR_001741195.1:n.1304G>A | ||
| XR_001741196.1:n.1217G>A | ||
| XR_001741197.1:n.2064G>A | ||
| XR_001741198.2:n.1960G>A | ||
| XR_001741199.1:n.1273G>A | ||
| NM_001363520.2:c.1244G>A | NP_001350449.1:p.Arg415Gln | |
| NM_001363521.2:c.1130G>A | NP_001350450.1:p.Arg377Gln | |
| NM_001371590.1:c.1310G>A | NP_001358519.1:p.Arg437Gln | |
| NM_001371591.1:c.1454G>A | NP_001358520.1:p.Arg485Gln | |
| NM_001371592.1:c.1451G>A | NP_001358521.1:p.Arg484Gln | |
| NM_001371593.1:c.1331G>A | NP_001358522.1:p.Arg444Gln | |
| NM_001371594.1:c.1298G>A | NP_001358523.1:p.Arg433Gln | |
| NM_001371595.1:c.1163G>A | NP_001358524.1:p.Arg388Gln | |
| NM_001371596.2:c.1445G>A MANE Select | NP_001358525.1:p.Arg482Gln | |
| NM_152778.3:c.1445G>A | NP_689991.1:p.Arg482Gln | |
| NM_152778.4:c.1445G>A | NP_689991.1:p.Arg482Gln |