Linked Data
ClinVar Variation Id:
1369280
ClinVar RCV Id:
RCV001870549
dbSNP Id:
rs1394582555
gnomAD v3:
4-127921609-G-A
gnomAD v4:
4-127921609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921609G>A , CM000666.2:g.127921609G>A | GRCh38 |
| NC_000004.11:g.128842764G>A , CM000666.1:g.128842764G>A | GRCh37 |
| NC_000004.10:g.129062214G>A | NCBI36 |
| NG_008657.1:g.49376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1265C>T | ENSP00000296468.3:p.Ser422Leu | |
| ENST00000509826.2:c.*586C>T | ENSP00000421176.2:n.*586C>T | |
| ENST00000513559.6:c.983C>T | ENSP00000425000.2:p.Ser328Leu | |
| ENST00000515130.6:c.*150C>T | ENSP00000493056.1:n.*150C>T | |
| ENST00000641025.1:c.*150C>T | ENSP00000493346.1:n.*150C>T | |
| ENST00000641092.1:c.*150C>T | ENSP00000493392.1:n.*150C>T | |
| ENST00000641133.1:c.*579C>T | ENSP00000493192.1:n.*579C>T | |
| ENST00000641146.1:n.1131C>T | ||
| ENST00000641147.1:c.815C>T | ENSP00000493133.1:p.Ser272Leu | |
| ENST00000641178.1:c.1130C>T | ENSP00000492989.1:p.Ser377Leu | |
| ENST00000641186.1:c.1151C>T | ENSP00000493347.1:p.Ser384Leu | |
| ENST00000641228.1:c.*150C>T | ENSP00000493194.1:n.*150C>T | |
| ENST00000641332.1:c.*326C>T | ENSP00000493397.1:n.*326C>T | |
| ENST00000641340.1:c.*394C>T | ENSP00000493191.1:n.*394C>T | |
| ENST00000641388.1:n.512C>T | ||
| ENST00000641393.1:c.815C>T | ENSP00000493197.1:p.Ser272Leu | |
| ENST00000641397.1:c.*150C>T | ENSP00000493406.1:n.*150C>T | |
| ENST00000641413.1:c.190C>T | ||
| ENST00000641434.1:c.1265C>T | ENSP00000493279.1:p.Ser422Leu | |
| ENST00000641464.1:c.*498C>T | ENSP00000493438.1:n.*498C>T | |
| ENST00000641482.1:c.*150C>T | ENSP00000493277.1:n.*150C>T | |
| ENST00000641508.1:c.*498C>T | ENSP00000493209.1:n.*498C>T | |
| ENST00000641509.1:c.950C>T | ENSP00000493459.1:p.Ser317Leu | |
| ENST00000641590.1:c.*150C>T | ENSP00000493132.1:n.*150C>T | |
| ENST00000641658.1:c.*430C>T | ENSP00000492987.1:n.*430C>T | |
| ENST00000641686.2:c.1265C>T MANE Select | ENSP00000493218.2:p.Ser422Leu | |
| ENST00000641690.1:c.1064C>T | ENSP00000492966.1:p.Ser355Leu | |
| ENST00000641742.1:c.*430C>T | ENSP00000493315.1:n.*430C>T | |
| ENST00000641748.1:c.1265C>T | ENSP00000493330.1:p.Ser422Leu | |
| ENST00000641753.1:c.1092C>T | ||
| ENST00000641774.1:c.*517C>T | ENSP00000492960.1:n.*517C>T | |
| ENST00000641830.1:c.497C>T | ||
| ENST00000641843.1:c.*326C>T | ENSP00000493174.1:n.*326C>T | |
| ENST00000641869.1:c.466C>T | ||
| ENST00000641870.1:c.*326C>T | ENSP00000493044.1:n.*326C>T | |
| ENST00000641882.1:c.*430C>T | ENSP00000493301.1:n.*430C>T | |
| ENST00000641928.1:c.*394C>T | ENSP00000493418.1:n.*394C>T | |
| ENST00000641949.1:c.554-773C>T | ENSP00000492891.1:n.554-773C>T | |
| ENST00000642012.1:n.1129C>T | ||
| ENST00000642034.1:c.*150C>T | ENSP00000493285.1:n.*150C>T | |
| ENST00000642042.1:c.1265C>T | ENSP00000493260.1:p.Ser422Leu | |
| ENST00000642078.1:c.*326C>T | ENSP00000492885.1:n.*326C>T | |
| ENST00000296468.7:c.1265C>T | ENSP00000296468.3:p.Ser422Leu | |
| ENST00000504126.1:n.293C>T | ||
| ENST00000513559.5:c.1130C>T | ENSP00000425000.1:p.Ser377Leu | |
| ENST00000515130.5:n.1607C>T | ||
| NM_152778.2:c.1265C>T | NP_689991.1:p.Ser422Leu | |
| XM_005262893.1:c.1265C>T | XP_005262950.1:p.Ser422Leu | |
| XM_005262896.1:c.1118C>T | XP_005262953.1:p.Ser373Leu | |
| XM_005262897.1:c.1064C>T | XP_005262954.1:p.Ser355Leu | |
| XM_005262898.2:c.*150C>T | XP_005262955.1:n.*150C>T | |
| XM_011531830.1:c.1151C>T | XP_011530132.1:p.Ser384Leu | |
| XM_011531831.1:c.950C>T | XP_011530133.1:p.Ser317Leu | |
| XM_011531832.1:c.*150C>T | XP_011530134.1:n.*150C>T | |
| XR_938717.1:n.1342C>T | ||
| NM_001363520.1:c.1064C>T | NP_001350449.1:p.Ser355Leu | |
| NM_001363521.1:c.950C>T | NP_001350450.1:p.Ser317Leu | |
| XM_005262898.3:c.*150C>T | XP_005262955.1:n.*150C>T | |
| XM_017007989.1:c.*150C>T | XP_016863478.1:n.*150C>T | |
| XM_024453981.1:c.1130C>T | XP_024309749.1:p.Ser377Leu | |
| XM_024453982.1:c.1016C>T | XP_024309750.1:p.Ser339Leu | |
| XM_024453983.1:c.815C>T | XP_024309751.1:p.Ser272Leu | |
| XR_001741194.1:n.1238C>T | ||
| XR_001741195.1:n.1124C>T | ||
| XR_001741196.1:n.1037C>T | ||
| XR_001741197.1:n.1197C>T | ||
| XR_001741198.2:n.1093C>T | ||
| XR_001741199.1:n.1093C>T | ||
| XR_938717.2:n.1342C>T | ||
| NM_001363520.2:c.1064C>T | NP_001350449.1:p.Ser355Leu | |
| NM_001363521.2:c.950C>T | NP_001350450.1:p.Ser317Leu | |
| NM_001371590.1:c.1130C>T | NP_001358519.1:p.Ser377Leu | |
| NM_001371591.1:c.1265C>T | NP_001358520.1:p.Ser422Leu | |
| NM_001371592.1:c.1271C>T | NP_001358521.1:p.Ser424Leu | |
| NM_001371593.1:c.1151C>T | NP_001358522.1:p.Ser384Leu | |
| NM_001371594.1:c.1118C>T | NP_001358523.1:p.Ser373Leu | |
| NM_001371595.1:c.983C>T | NP_001358524.1:p.Ser328Leu | |
| NM_001371596.2:c.1265C>T MANE Select | NP_001358525.1:p.Ser422Leu | |
| NM_152778.3:c.1265C>T | NP_689991.1:p.Ser422Leu | |
| NM_152778.4:c.1265C>T | NP_689991.1:p.Ser422Leu |