Linked Data
ClinVar Variation Id:
206153
dbSNP Id:
rs200591471
ExAC:
4:128861029 A / G
gnomAD v2:
4-128861029-A-G
gnomAD v3:
4-127939874-A-G
gnomAD v4:
4-127939874-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127939874A>G , CM000666.2:g.127939874A>G | GRCh38 |
| NC_000004.11:g.128861029A>G , CM000666.1:g.128861029A>G | GRCh37 |
| NC_000004.10:g.129080479A>G | NCBI36 |
| NG_008657.1:g.31111T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.677T>C | ENSP00000296468.3:p.Ile226Thr | |
| ENST00000505284.6:n.893T>C | ||
| ENST00000508441.2:n.692T>C | ||
| ENST00000509826.2:c.677T>C | ENSP00000421176.2:p.Ile226Thr | |
| ENST00000513559.6:c.419-1038T>C | ENSP00000425000.2:n.419-1038T>C | |
| ENST00000515130.6:c.542T>C | ENSP00000493056.1:p.Ile181Thr | |
| ENST00000641025.1:c.677T>C | ENSP00000493346.1:p.Ile226Thr | |
| ENST00000641092.1:c.553+2171T>C | ENSP00000493392.1:n.553+2171T>C | |
| ENST00000641133.1:c.677T>C | ENSP00000493192.1:p.Ile226Thr | |
| ENST00000641134.1:c.419-1036T>C | ENSP00000492925.1:n.419-1036T>C | |
| ENST00000641147.1:c.304+3878T>C | ENSP00000493133.1:n.304+3878T>C | |
| ENST00000641178.1:c.542T>C | ENSP00000492989.1:p.Ile181Thr | |
| ENST00000641186.1:c.563T>C | ENSP00000493347.1:p.Ile188Thr | |
| ENST00000641228.1:c.553+2171T>C | ENSP00000493194.1:n.553+2171T>C | |
| ENST00000641243.1:c.554-1036T>C | ENSP00000493083.1:n.554-1036T>C | |
| ENST00000641264.1:c.*474T>C | ENSP00000492908.1:n.*474T>C | |
| ENST00000641332.1:c.554-1036T>C | ENSP00000493397.1:n.554-1036T>C | |
| ENST00000641340.1:c.677T>C | ENSP00000493191.1:p.Ile226Thr | |
| ENST00000641369.1:c.173T>C | ENSP00000493037.1:p.Ile58Thr | |
| ENST00000641393.1:c.304+3878T>C | ENSP00000493197.1:n.304+3878T>C | |
| ENST00000641397.1:c.439+3878T>C | ENSP00000493406.1:n.439+3878T>C | |
| ENST00000641434.1:c.677T>C | ENSP00000493279.1:p.Ile226Thr | |
| ENST00000641464.1:c.428T>C | ENSP00000493438.1:p.Ile143Thr | |
| ENST00000641482.1:c.677T>C | ENSP00000493277.1:p.Ile226Thr | |
| ENST00000641503.1:c.563T>C | ENSP00000493304.1:p.Ile188Thr | |
| ENST00000641508.1:c.677T>C | ENSP00000493209.1:p.Ile226Thr | |
| ENST00000641509.1:c.439+3878T>C | ENSP00000493459.1:n.439+3878T>C | |
| ENST00000641538.1:c.523T>C | ||
| ENST00000641590.1:c.563T>C | ENSP00000493132.1:p.Ile188Thr | |
| ENST00000641658.1:c.419-1036T>C | ENSP00000492987.1:n.419-1036T>C | |
| ENST00000641686.2:c.677T>C MANE Select | ENSP00000493218.2:p.Ile226Thr | |
| ENST00000641690.1:c.553+2171T>C | ENSP00000492966.1:n.553+2171T>C | |
| ENST00000641695.1:c.677T>C | ENSP00000493134.1:p.Ile226Thr | |
| ENST00000641742.1:c.554-1036T>C | ENSP00000493315.1:n.554-1036T>C | |
| ENST00000641743.1:c.677T>C | ENSP00000493130.1:p.Ile226Thr | |
| ENST00000641748.1:c.677T>C | ENSP00000493330.1:p.Ile226Thr | |
| ENST00000641753.1:c.504T>C | ||
| ENST00000641774.1:c.563T>C | ENSP00000492960.1:p.Ile188Thr | |
| ENST00000641776.1:c.*229T>C | ENSP00000493261.1:n.*229T>C | |
| ENST00000641830.1:c.13T>C | ||
| ENST00000641843.1:c.305-1036T>C | ENSP00000493174.1:n.305-1036T>C | |
| ENST00000641869.1:c.4-1036T>C | ||
| ENST00000641870.1:c.554-1036T>C | ENSP00000493044.1:n.554-1036T>C | |
| ENST00000641882.1:c.440-1036T>C | ENSP00000493301.1:n.440-1036T>C | |
| ENST00000641928.1:c.428T>C | ENSP00000493418.1:p.Ile143Thr | |
| ENST00000641949.1:c.553+2171T>C | ENSP00000492891.1:n.553+2171T>C | |
| ENST00000642034.1:c.563T>C | ENSP00000493285.1:p.Ile188Thr | |
| ENST00000642042.1:c.677T>C | ENSP00000493260.1:p.Ile226Thr | |
| ENST00000642078.1:c.419-1036T>C | ENSP00000492885.1:n.419-1036T>C | |
| ENST00000642121.1:n.91-9057T>C | ||
| ENST00000642143.1:n.399-273T>C | ||
| ENST00000296468.7:c.677T>C | ENSP00000296468.3:p.Ile226Thr | |
| ENST00000505284.5:n.572T>C | ||
| ENST00000508441.1:n.566-1036T>C | ||
| ENST00000509826.1:c.428T>C | ENSP00000421176.1:p.Ile143Thr | |
| ENST00000513559.5:c.542T>C | ENSP00000425000.1:p.Ile181Thr | |
| ENST00000515130.5:n.1123T>C | ||
| NM_152778.2:c.677T>C | NP_689991.1:p.Ile226Thr | |
| XM_005262893.1:c.677T>C | XP_005262950.1:p.Ile226Thr | |
| XM_005262896.1:c.554-1038T>C | XP_005262953.1:n.554-1038T>C | |
| XM_005262897.1:c.553+2171T>C | XP_005262954.1:n.553+2171T>C | |
| XM_005262898.2:c.677T>C | XP_005262955.1:p.Ile226Thr | |
| XM_005262900.2:c.554-1036T>C | XP_005262957.1:n.554-1036T>C | |
| XM_011531830.1:c.563T>C | XP_011530132.1:p.Ile188Thr | |
| XM_011531831.1:c.439+3878T>C | XP_011530133.1:n.439+3878T>C | |
| XM_011531832.1:c.563T>C | XP_011530134.1:p.Ile188Thr | |
| XR_938717.1:n.754T>C | ||
| NM_001363520.1:c.553+2171T>C | NP_001350449.1:n.553+2171T>C | |
| NM_001363521.1:c.439+3878T>C | NP_001350450.1:n.439+3878T>C | |
| XM_005262898.3:c.677T>C | XP_005262955.1:p.Ile226Thr | |
| XM_017007989.1:c.553+2171T>C | XP_016863478.1:n.553+2171T>C | |
| XM_024453981.1:c.542T>C | XP_024309749.1:p.Ile181Thr | |
| XM_024453982.1:c.428T>C | XP_024309750.1:p.Ile143Thr | |
| XM_024453983.1:c.304+3878T>C | XP_024309751.1:n.304+3878T>C | |
| XR_001741194.1:n.754T>C | ||
| XR_001741195.1:n.640T>C | ||
| XR_001741196.1:n.630+2171T>C | ||
| XR_001741197.1:n.631-1036T>C | ||
| XR_001741198.2:n.631-1036T>C | ||
| XR_001741199.1:n.631-1036T>C | ||
| XR_938717.2:n.754T>C | ||
| NM_001363520.2:c.553+2171T>C | NP_001350449.1:n.553+2171T>C | |
| NM_001363521.2:c.439+3878T>C | NP_001350450.1:n.439+3878T>C | |
| NM_001371590.1:c.542T>C | NP_001358519.1:p.Ile181Thr | |
| NM_001371591.1:c.677T>C | NP_001358520.1:p.Ile226Thr | |
| NM_001371592.1:c.683T>C | NP_001358521.1:p.Ile228Thr | |
| NM_001371593.1:c.563T>C | NP_001358522.1:p.Ile188Thr | |
| NM_001371594.1:c.554-1038T>C | NP_001358523.1:n.554-1038T>C | |
| NM_001371595.1:c.419-1038T>C | NP_001358524.1:n.419-1038T>C | |
| NM_001371596.2:c.677T>C MANE Select | NP_001358525.1:p.Ile226Thr | |
| NM_152778.3:c.677T>C | NP_689991.1:p.Ile226Thr | |
| NM_152778.4:c.677T>C | NP_689991.1:p.Ile226Thr |