Linked Data
ClinVar Variation Id:
21690
ClinVar RCV Id:
RCV000020888
RCV000236498
RCV000654080
RCV001173151
RCV002415424
RCV001270096
RCV002490399
dbSNP Id:
rs80338926
ExAC:
5:148407323 G / A
gnomAD v2:
5-148407323-G-A
gnomAD v3:
5-149027760-G-A
gnomAD v4:
5-149027760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027760G>A , CM000667.2:g.149027760G>A | GRCh38 |
| NC_000005.9:g.148407323G>A , CM000667.1:g.148407323G>A | GRCh37 |
| NC_000005.8:g.148387516G>A | NCBI36 |
| NG_007947.2:g.40415C>T , LRG_269:g.40415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1868C>T | ||
| ENST00000515425.6:c.1972C>T MANE Select | ENSP00000423660.1:p.Arg658Cys | |
| ENST00000675793.1:c.*1256C>T | ENSP00000502039.1:n.*1256C>T | |
| ENST00000676056.1:c.*1482C>T | ENSP00000501827.1:n.*1482C>T | |
| ENST00000323829.9:c.*1360C>T | ENSP00000313025.5:n.*1360C>T | |
| ENST00000504517.5:c.1502C>T | ENSP00000421779.1:n.1502C>T | |
| ENST00000504690.5:c.1972C>T | ENSP00000425627.1:p.Arg658Cys | |
| ENST00000510779.1:c.1022C>T | ||
| ENST00000511307.5:c.*1752C>T | ENSP00000421420.1:n.*1752C>T | |
| ENST00000512049.5:c.1951C>T | ENSP00000421860.1:p.Arg651Cys | |
| ENST00000513604.5:c.*1360C>T | ENSP00000423111.1:n.*1360C>T | |
| ENST00000515425.5:c.1972C>T | ENSP00000423660.1:p.Arg658Cys | |
| NM_024577.3:c.1972C>T , LRG_269t1:c.1972C>T | NP_078853.2:p.Arg658Cys | |
| NM_024577.4:c.1972C>T MANE Select | NP_078853.2:p.Arg658Cys |