Linked Data
ClinVar Variation Id:
543415
ClinVar RCV Id:
RCV000654173
RCV000857157
RCV001153290
RCV001092867
RCV002424545
RCV001153289
RCV004527713
dbSNP Id:
rs757969875
ExAC:
5:148418029 G / A
gnomAD v2:
5-148418029-G-A
gnomAD v3:
5-149038466-G-A
gnomAD v4:
5-149038466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149038466G>A , CM000667.2:g.149038466G>A | GRCh38 |
| NC_000005.9:g.148418029G>A , CM000667.1:g.148418029G>A | GRCh37 |
| NC_000005.8:g.148398222G>A | NCBI36 |
| NG_007947.2:g.29709C>T , LRG_269:g.29709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.720C>T | ||
| ENST00000515425.6:c.830C>T MANE Select | ENSP00000423660.1:p.Thr277Met | |
| ENST00000674655.1:c.92C>T | ENSP00000502840.1:p.Thr31Met | |
| ENST00000674983.1:c.*88C>T | ENSP00000502387.1:n.*88C>T | |
| ENST00000675793.1:c.830C>T | ENSP00000502039.1:p.Thr277Met | |
| ENST00000676056.1:c.*88C>T | ENSP00000501827.1:n.*88C>T | |
| ENST00000323829.9:c.*88C>T | ENSP00000313025.5:n.*88C>T | |
| ENST00000503071.1:n.297C>T | ||
| ENST00000504517.5:c.230C>T | ENSP00000421779.1:p.Thr77Met | |
| ENST00000504690.5:c.830C>T | ENSP00000425627.1:p.Thr277Met | |
| ENST00000511307.5:c.*610C>T | ENSP00000421420.1:n.*610C>T | |
| ENST00000512049.5:c.809C>T | ENSP00000421860.1:p.Thr270Met | |
| ENST00000513604.5:c.*88C>T | ENSP00000423111.1:n.*88C>T | |
| ENST00000515425.5:c.830C>T | ENSP00000423660.1:p.Thr277Met | |
| NM_024577.3:c.830C>T , LRG_269t1:c.830C>T | NP_078853.2:p.Thr277Met | |
| NM_024577.4:c.830C>T MANE Select | NP_078853.2:p.Thr277Met |