Linked Data
ClinVar Variation Id:
945599
ClinVar RCV Id:
RCV001216271
dbSNP Id:
rs749316605
ExAC:
5:148406318 G / A
gnomAD v2:
5-148406318-G-A
gnomAD v4:
5-149026755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026755G>A , CM000667.2:g.149026755G>A | GRCh38 |
| NC_000005.9:g.148406318G>A , CM000667.1:g.148406318G>A | GRCh37 |
| NC_000005.8:g.148386511G>A | NCBI36 |
| NG_007947.2:g.41420C>T , LRG_269:g.41420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2769-3C>T | ||
| ENST00000515425.6:c.2873-3C>T MANE Select | ENSP00000423660.1:n.2873-3C>T | |
| ENST00000675793.1:c.*2157-3C>T | ENSP00000502039.1:n.*2157-3C>T | |
| ENST00000676056.1:c.*2383-3C>T | ENSP00000501827.1:n.*2383-3C>T | |
| ENST00000323829.9:c.*2261-3C>T | ENSP00000313025.5:n.*2261-3C>T | |
| ENST00000504517.5:c.2403-3C>T | ENSP00000421779.1:n.2403-3C>T | |
| ENST00000504690.5:c.2873-3C>T | ENSP00000425627.1:n.2873-3C>T | |
| ENST00000510779.1:c.1923-3C>T | ||
| ENST00000511307.5:c.*2757C>T | ENSP00000421420.1:n.*2757C>T | |
| ENST00000512049.5:c.2852-3C>T | ENSP00000421860.1:n.2852-3C>T | |
| ENST00000513604.5:c.*2365C>T | ENSP00000423111.1:n.*2365C>T | |
| ENST00000515425.5:c.2873-3C>T | ENSP00000423660.1:n.2873-3C>T | |
| NM_024577.3:c.2873-3C>T , LRG_269t1:c.2873-3C>T | NP_078853.2:n.2873-3C>T | |
| NM_024577.4:c.2873-3C>T MANE Select | NP_078853.2:n.2873-3C>T |