Linked Data
ClinVar Variation Id:
347540
dbSNP Id:
rs570757797
ExAC:
4:128841826 G / C
gnomAD v2:
4-128841826-G-C
gnomAD v3:
4-127920671-G-C
gnomAD v4:
4-127920671-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127920671G>C , CM000666.2:g.127920671G>C | GRCh38 |
| NC_000004.11:g.128841826G>C , CM000666.1:g.128841826G>C | GRCh37 |
| NC_000004.10:g.129061276G>C | NCBI36 |
| NG_008657.1:g.50314C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1516C>G | ENSP00000296468.3:p.Leu506Val | |
| ENST00000509826.2:c.*837C>G | ENSP00000421176.2:n.*837C>G | |
| ENST00000513559.6:c.1234C>G | ENSP00000425000.2:p.Leu412Val | |
| ENST00000515130.6:c.*401C>G | ENSP00000493056.1:n.*401C>G | |
| ENST00000641025.1:c.*401C>G | ENSP00000493346.1:n.*401C>G | |
| ENST00000641092.1:c.*401C>G | ENSP00000493392.1:n.*401C>G | |
| ENST00000641133.1:c.*1517C>G | ENSP00000493192.1:n.*1517C>G | |
| ENST00000641146.1:n.2069C>G | ||
| ENST00000641147.1:c.1066C>G | ENSP00000493133.1:p.Leu356Val | |
| ENST00000641178.1:c.1381C>G | ENSP00000492989.1:p.Leu461Val | |
| ENST00000641186.1:c.1402C>G | ENSP00000493347.1:p.Leu468Val | |
| ENST00000641228.1:c.*1088C>G | ENSP00000493194.1:n.*1088C>G | |
| ENST00000641332.1:c.*658C>G | ENSP00000493397.1:n.*658C>G | |
| ENST00000641340.1:c.*1332C>G | ENSP00000493191.1:n.*1332C>G | |
| ENST00000641388.1:n.763C>G | ||
| ENST00000641393.1:c.1066C>G | ENSP00000493197.1:p.Leu356Val | |
| ENST00000641397.1:c.*401C>G | ENSP00000493406.1:n.*401C>G | |
| ENST00000641413.1:c.441C>G | ||
| ENST00000641434.1:c.1516C>G | ENSP00000493279.1:p.Leu506Val | |
| ENST00000641464.1:c.*749C>G | ENSP00000493438.1:n.*749C>G | |
| ENST00000641482.1:c.*1088C>G | ENSP00000493277.1:n.*1088C>G | |
| ENST00000641508.1:c.*749C>G | ENSP00000493209.1:n.*749C>G | |
| ENST00000641509.1:c.1201C>G | ENSP00000493459.1:p.Leu401Val | |
| ENST00000641590.1:c.*1088C>G | ENSP00000493132.1:n.*1088C>G | |
| ENST00000641658.1:c.*681C>G | ENSP00000492987.1:n.*681C>G | |
| ENST00000641686.2:c.1516C>G MANE Select | ENSP00000493218.2:p.Leu506Val | |
| ENST00000641690.1:c.1315C>G | ENSP00000492966.1:p.Leu439Val | |
| ENST00000641742.1:c.*681C>G | ENSP00000493315.1:n.*681C>G | |
| ENST00000641748.1:c.1516C>G | ENSP00000493330.1:p.Leu506Val | |
| ENST00000641753.1:c.1343C>G | ||
| ENST00000641774.1:c.*768C>G | ENSP00000492960.1:n.*768C>G | |
| ENST00000641843.1:c.*577C>G | ENSP00000493174.1:n.*577C>G | |
| ENST00000641869.1:c.717C>G | ||
| ENST00000641870.1:c.*1264C>G | ENSP00000493044.1:n.*1264C>G | |
| ENST00000641882.1:c.*681C>G | ENSP00000493301.1:n.*681C>G | |
| ENST00000641928.1:c.*645C>G | ENSP00000493418.1:n.*645C>G | |
| ENST00000641949.1:c.719C>G | ENSP00000492891.1:p.Thr240Ser | |
| ENST00000642012.1:n.1380C>G | ||
| ENST00000642034.1:c.*401C>G | ENSP00000493285.1:n.*401C>G | |
| ENST00000642042.1:c.*835C>G | ENSP00000493260.1:n.*835C>G | |
| ENST00000642078.1:c.*577C>G | ENSP00000492885.1:n.*577C>G | |
| ENST00000296468.7:c.1516C>G | ENSP00000296468.3:p.Leu506Val | |
| ENST00000513559.5:c.1381C>G | ENSP00000425000.1:p.Leu461Val | |
| ENST00000515130.5:n.1858C>G | ||
| NM_152778.2:c.1516C>G | NP_689991.1:p.Leu506Val | |
| XM_005262893.1:c.1516C>G | XP_005262950.1:p.Leu506Val | |
| XM_005262896.1:c.1369C>G | XP_005262953.1:p.Leu457Val | |
| XM_005262897.1:c.1315C>G | XP_005262954.1:p.Leu439Val | |
| XM_005262898.2:c.*1088C>G | XP_005262955.1:n.*1088C>G | |
| XM_011531830.1:c.1402C>G | XP_011530132.1:p.Leu468Val | |
| XM_011531831.1:c.1201C>G | XP_011530133.1:p.Leu401Val | |
| XM_011531832.1:c.*1088C>G | XP_011530134.1:n.*1088C>G | |
| NM_001363520.1:c.1315C>G | NP_001350449.1:p.Leu439Val | |
| NM_001363521.1:c.1201C>G | NP_001350450.1:p.Leu401Val | |
| XM_005262898.3:c.*1088C>G | XP_005262955.1:n.*1088C>G | |
| XM_017007989.1:c.*1088C>G | XP_016863478.1:n.*1088C>G | |
| XM_024453981.1:c.1381C>G | XP_024309749.1:p.Leu461Val | |
| XM_024453982.1:c.1267C>G | XP_024309750.1:p.Leu423Val | |
| XM_024453983.1:c.1066C>G | XP_024309751.1:p.Leu356Val | |
| XR_001741194.1:n.1489C>G | ||
| XR_001741195.1:n.1375C>G | ||
| XR_001741196.1:n.1288C>G | ||
| XR_001741197.1:n.2135C>G | ||
| XR_001741198.2:n.2031C>G | ||
| XR_001741199.1:n.1344C>G | ||
| NM_001363520.2:c.1315C>G | NP_001350449.1:p.Leu439Val | |
| NM_001363521.2:c.1201C>G | NP_001350450.1:p.Leu401Val | |
| NM_001371590.1:c.1381C>G | NP_001358519.1:p.Leu461Val | |
| NM_001371591.1:c.1525C>G | NP_001358520.1:p.Leu509Val | |
| NM_001371592.1:c.1522C>G | NP_001358521.1:p.Leu508Val | |
| NM_001371593.1:c.1402C>G | NP_001358522.1:p.Leu468Val | |
| NM_001371594.1:c.1369C>G | NP_001358523.1:p.Leu457Val | |
| NM_001371595.1:c.1234C>G | NP_001358524.1:p.Leu412Val | |
| NM_001371596.2:c.1516C>G MANE Select | NP_001358525.1:p.Leu506Val | |
| NM_152778.3:c.1516C>G | NP_689991.1:p.Leu506Val | |
| NM_152778.4:c.1516C>G | NP_689991.1:p.Leu506Val |