Linked Data
ClinVar Variation Id:
4559
ClinVar RCV Id:
RCV000004821
dbSNP Id:
rs148987163
gnomAD v2:
20-3897573-G-T
gnomAD v3:
20-3916926-G-T
gnomAD v4:
20-3916926-G-T
COSMIC:
COSM1026774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3916926G>T , CM000682.2:g.3916926G>T | GRCh38 |
| NC_000020.10:g.3897573G>T , CM000682.1:g.3897573G>T | GRCh37 |
| NC_000020.9:g.3845573G>T | NCBI36 |
| NG_008131.3:g.33088G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610179.7:c.1083-1G>T MANE Select | ENSP00000477429.2:n.1083-1G>T | |
| ENST00000316562.9:c.1413-1G>T | ENSP00000313377.4:n.1413-1G>T | |
| ENST00000336066.8:c.*424-1G>T | ENSP00000477229.2:n.*424-1G>T | |
| ENST00000610179.6:c.1083-1G>T | ENSP00000477429.2:n.1083-1G>T | |
| ENST00000643504.2:c.*713-1G>T | ENSP00000495157.2:n.*713-1G>T | |
| ENST00000646394.1:c.910-1G>T | ||
| ENST00000316562.8:c.1413-1G>T | ENSP00000313377.4:n.1413-1G>T | |
| ENST00000336066.7:c.*424-1G>T | ENSP00000477229.1:n.*424-1G>T | |
| ENST00000464452.1:n.648-1G>T | ||
| ENST00000495692.5:c.105-1G>T | ENSP00000476745.1:n.105-1G>T | |
| ENST00000497424.5:c.540-1G>T | ENSP00000417609.1:n.540-1G>T | |
| ENST00000610179.5:c.1044-1G>T | ENSP00000477429.1:n.1044-1G>T | |
| ENST00000621507.1:c.540-1G>T | ENSP00000481523.1:n.540-1G>T | |
| NM_024960.4:c.540-1G>T | NP_079236.3:n.540-1G>T | |
| NM_153638.2:c.1413-1G>T | NP_705902.2:n.1413-1G>T | |
| NM_153640.2:c.540-1G>T | NP_705904.1:n.540-1G>T | |
| XM_005260835.2:c.798-1G>T | XP_005260892.1:n.798-1G>T | |
| XM_005260836.3:c.540-1G>T | XP_005260893.3:n.540-1G>T | |
| XM_006723631.1:c.540-1G>T | XP_006723694.1:n.540-1G>T | |
| XM_011529364.1:c.1236-1G>T | XP_011527666.1:n.1236-1G>T | |
| NM_001324191.1:c.540-1G>T | NP_001311120.1:n.540-1G>T | |
| NM_001324193.1:c.105-1G>T | NP_001311122.1:n.105-1G>T | |
| NM_024960.5:c.540-1G>T | NP_079236.3:n.540-1G>T | |
| NM_153638.3:c.1413-1G>T | NP_705902.2:n.1413-1G>T | |
| NM_153640.3:c.540-1G>T | NP_705904.1:n.540-1G>T | |
| NR_136715.1:n.1437-1G>T | ||
| XM_005260835.3:c.798-1G>T | XP_005260892.1:n.798-1G>T | |
| XM_005260836.4:c.540-1G>T | XP_005260893.3:n.540-1G>T | |
| XM_011529364.3:c.1236-1G>T | XP_011527666.1:n.1236-1G>T | |
| XM_017028077.2:c.105-1G>T | XP_016883566.1:n.105-1G>T | |
| XM_017028078.2:c.105-1G>T | XP_016883567.1:n.105-1G>T | |
| XM_017028079.2:c.105-1G>T | XP_016883568.1:n.105-1G>T | |
| XM_024452002.1:c.105-1G>T | XP_024307770.1:n.105-1G>T | |
| XR_002958533.1:n.2201-1G>T | ||
| NM_001324191.2:c.540-1G>T | NP_001311120.1:n.540-1G>T | |
| NM_001324193.2:c.105-1G>T | NP_001311122.1:n.105-1G>T | |
| NM_024960.6:c.540-1G>T | NP_079236.3:n.540-1G>T | |
| NR_136715.2:n.984-1G>T | ||
| NM_001386393.1:c.1083-1G>T MANE Select | NP_001373322.1:n.1083-1G>T | |
| NM_153638.4:c.1413-1G>T | NP_705902.2:n.1413-1G>T | |
| NM_153640.4:c.540-1G>T | NP_705904.1:n.540-1G>T |