Linked Data
ClinVar Variation Id:
308282
dbSNP Id:
rs531501340
gnomAD v2:
12-32655281-C-T
gnomAD v3:
12-32502347-C-T
gnomAD v4:
12-32502347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32502347C>T , CM000674.2:g.32502347C>T | GRCh38 |
| NC_000012.11:g.32655281C>T , CM000674.1:g.32655281C>T | GRCh37 |
| NC_000012.10:g.32546548C>T | NCBI36 |
| NG_008626.2:g.107819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.-368+9C>T | ENSP00000394487.2:n.-368+9C>T | |
| ENST00000531134.7:c.10+16204C>T | ENSP00000431323.1:n.10+16204C>T | |
| ENST00000583694.2:c.-246+9C>T | ENSP00000462623.2:n.-246+9C>T | |
| ENST00000682739.1:c.-1018+9C>T | ENSP00000507616.1:n.-1018+9C>T | |
| ENST00000683182.1:c.-603+9C>T | ENSP00000507831.1:n.-603+9C>T | |
| ENST00000531134.6:c.10+16204C>T | ENSP00000431323.1:n.10+16204C>T | |
| ENST00000534526.7:c.167-61790C>T MANE Select | ENSP00000449273.1:n.167-61790C>T | |
| ENST00000395740.5:c.-246+9C>T | ENSP00000379089.1:n.-246+9C>T | |
| ENST00000427716.6:c.-246+9C>T | ENSP00000394487.2:n.-246+9C>T | |
| ENST00000472289.5:c.-246+9C>T | ENSP00000434356.1:n.-246+9C>T | |
| ENST00000473513.5:n.178+9C>T | ||
| ENST00000479023.5:n.160+9C>T | ||
| ENST00000493087.5:c.-246+9C>T | ENSP00000437109.1:n.-246+9C>T | |
| ENST00000494275.5:n.290+9C>T | ||
| ENST00000497153.5:n.208+9C>T | ||
| ENST00000531134.5:c.10+16204C>T | ENSP00000431323.1:n.10+16204C>T | |
| ENST00000534526.6:c.167-61790C>T | ENSP00000449273.1:n.167-61790C>T | |
| ENST00000546442.5:c.-341+9C>T | ENSP00000446695.1:n.-341+9C>T | |
| ENST00000550091.5:n.105-61790C>T | ||
| ENST00000551984.5:c.-246+9C>T | ENSP00000449614.1:n.-246+9C>T | |
| ENST00000583694.1:c.-368+9C>T | ENSP00000462623.1:n.-368+9C>T | |
| NM_001304481.1:c.10+16204C>T | NP_001291410.1:n.10+16204C>T | |
| NM_001304483.1:c.-1090+9C>T | NP_001291412.1:n.-1090+9C>T | |
| NM_001304484.1:c.-1397+9C>T | NP_001291413.1:n.-1397+9C>T | |
| NM_139241.3:c.-246+9C>T | NP_640334.2:n.-246+9C>T | |
| XM_005253304.3:c.248-61790C>T | XP_005253361.1:n.248-61790C>T | |
| XM_005253307.2:c.-341+9C>T | XP_005253364.1:n.-341+9C>T | |
| XM_005253309.1:c.-340-61790C>T | XP_005253366.1:n.-340-61790C>T | |
| XM_011520556.1:c.-389+9C>T | XP_011518858.1:n.-389+9C>T | |
| NM_001330373.1:c.-341+9C>T | NP_001317302.1:n.-341+9C>T | |
| NM_001330374.1:c.-341+16204C>T | NP_001317303.1:n.-341+16204C>T | |
| XM_005253304.4:c.248-61790C>T | XP_005253361.1:n.248-61790C>T | |
| XM_017018803.1:c.248-61790C>T | XP_016874292.1:n.248-61790C>T | |
| XM_017018805.1:c.-106+9C>T | XP_016874294.1:n.-106+9C>T | |
| XM_024448837.1:c.-875+9C>T | XP_024304605.1:n.-875+9C>T | |
| XM_024448838.1:c.-674+9C>T | XP_024304606.1:n.-674+9C>T | |
| XM_024448839.1:c.-1018+9C>T | XP_024304607.1:n.-1018+9C>T | |
| XM_024448840.1:c.-355-61790C>T | XP_024304608.1:n.-355-61790C>T | |
| XR_001748576.1:n.438-61790C>T | ||
| NM_001370297.1:c.-106+9C>T | NP_001357226.1:n.-106+9C>T | |
| NM_001370298.1:c.248-61790C>T | NP_001357227.1:n.248-61790C>T | |
| NM_001304483.2:c.-1090+9C>T | NP_001291412.1:n.-1090+9C>T | |
| NM_001304484.2:c.-1397+9C>T | NP_001291413.1:n.-1397+9C>T | |
| NM_001330373.2:c.-341+9C>T | NP_001317302.1:n.-341+9C>T | |
| NM_001330374.2:c.-341+16204C>T | NP_001317303.1:n.-341+16204C>T | |
| NM_001370298.3:c.167-61790C>T MANE Select | NP_001357227.2:n.167-61790C>T | |
| NM_001384126.1:c.167-61790C>T | NP_001371055.1:n.167-61790C>T | |
| NM_001384127.1:c.-246+9C>T | NP_001371056.1:n.-246+9C>T | |
| NM_001384131.1:c.-246+9C>T | NP_001371060.1:n.-246+9C>T | |
| NR_168884.1:n.176+9C>T |