Linked Data
ClinVar Variation Id:
541073
ClinVar RCV Id:
RCV000651269
RCV002493045
RCV003451581
RCV003451582
RCV003451580
RCV003458497
RCV003953183
RCV004025825
dbSNP Id:
rs183195890
ExAC:
1:201013535 G / A
gnomAD v2:
1-201013535-G-A
gnomAD v3:
1-201044407-G-A
gnomAD v4:
1-201044407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201044407G>A , CM000663.2:g.201044407G>A | GRCh38 |
| NC_000001.10:g.201013535G>A , CM000663.1:g.201013535G>A | GRCh37 |
| NC_000001.9:g.199280158G>A | NCBI36 |
| NG_009816.1:g.73160C>T | |
| NG_009816.2:g.73160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4718C>T MANE Select | ENSP00000355192.3:p.Thr1573Met | |
| ENST00000679417.1:c.*3881C>T | ENSP00000506706.1:n.*3881C>T | |
| ENST00000680051.1:n.1844C>T | ||
| ENST00000680059.1:c.*2236C>T | ENSP00000504944.1:n.*2236C>T | |
| ENST00000681078.1:c.*493C>T | ENSP00000506645.1:n.*493C>T | |
| ENST00000681190.1:c.*900C>T | ENSP00000506428.1:n.*900C>T | |
| ENST00000681874.1:c.4658C>T | ENSP00000505162.1:p.Thr1553Met | |
| ENST00000362061.3:c.4718C>T | ENSP00000355192.3:p.Thr1573Met | |
| ENST00000367338.7:c.4661C>T | ENSP00000356307.3:p.Thr1554Met | |
| NM_000069.2:c.4718C>T | NP_000060.2:p.Thr1573Met | |
| XM_005245478.2:c.4661C>T | XP_005245535.1:p.Thr1554Met | |
| XM_005245478.3:c.4661C>T | XP_005245535.1:p.Thr1554Met | |
| NM_000069.3:c.4718C>T MANE Select | NP_000060.2:p.Thr1573Met |