Linked Data
ClinVar Variation Id:
664051
ClinVar RCV Id:
RCV000822057
dbSNP Id:
rs143815159
ExAC:
1:100382037 A / T
gnomAD v2:
1-100382037-A-T
gnomAD v3:
1-99916481-A-T
gnomAD v4:
1-99916481-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99916481A>T , CM000663.2:g.99916481A>T | GRCh38 |
| NC_000001.10:g.100382037A>T , CM000663.1:g.100382037A>T | GRCh37 |
| NC_000001.9:g.100154625A>T | NCBI36 |
| NG_012865.1:g.71398A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.4331A>T MANE Select | ENSP00000355106.3:p.Asn1444Ile | |
| ENST00000637337.1:n.4542A>T | ||
| ENST00000294724.8:c.4331A>T | ENSP00000294724.4:p.Asn1444Ile | |
| ENST00000361302.7:c.4283A>T | ENSP00000354971.3:p.Asn1428Ile | |
| ENST00000361522.4:c.4280A>T | ENSP00000354635.4:p.Asn1427Ile | |
| ENST00000361915.7:c.4331A>T | ENSP00000355106.3:p.Asn1444Ile | |
| ENST00000370161.6:c.4283A>T | ENSP00000359180.2:p.Asn1428Ile | |
| ENST00000370163.7:c.4331A>T | ENSP00000359182.3:p.Asn1444Ile | |
| ENST00000370165.7:c.4331A>T | ENSP00000359184.3:p.Asn1444Ile | |
| NM_000028.2:c.4331A>T | NP_000019.2:p.Asn1444Ile | |
| NM_000642.2:c.4331A>T | NP_000633.2:p.Asn1444Ile | |
| NM_000643.2:c.4331A>T | NP_000634.2:p.Asn1444Ile | |
| NM_000644.2:c.4331A>T | NP_000635.2:p.Asn1444Ile | |
| NM_000645.2:c.4280A>T | NP_000636.2:p.Asn1427Ile | |
| NM_000646.2:c.4283A>T | NP_000637.2:p.Asn1428Ile | |
| XM_005270557.1:c.4331A>T | XP_005270614.1:p.Asn1444Ile | |
| XR_947626.1:n.1318-3264T>A | ||
| XR_947627.1:n.1207-3264T>A | ||
| XR_947628.1:n.1312-3264T>A | ||
| XR_947630.1:n.1250-3264T>A | ||
| XR_947632.1:n.1136-3264T>A | ||
| XR_947633.1:n.1247-3264T>A | ||
| XR_947634.1:n.661-3264T>A | ||
| XR_947635.1:n.729-3264T>A | ||
| XM_005270557.2:c.4331A>T | XP_005270614.1:p.Asn1444Ile | |
| XM_017000501.2:c.2591A>T | XP_016855990.1:p.Asn864Ile | |
| NM_000642.3:c.4331A>T MANE Select | NP_000633.2:p.Asn1444Ile |