Linked Data
ClinVar Variation Id:
917195
ClinVar RCV Id:
RCV001173834
dbSNP Id:
rs763964456
ExAC:
5:148406226 G / T
gnomAD v2:
5-148406226-G-T
gnomAD v4:
5-149026663-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026663G>T , CM000667.2:g.149026663G>T | GRCh38 |
| NC_000005.9:g.148406226G>T , CM000667.1:g.148406226G>T | GRCh37 |
| NC_000005.8:g.148386419G>T | NCBI36 |
| NG_007947.2:g.41512C>A , LRG_269:g.41512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2858C>A | ||
| ENST00000515425.6:c.2962C>A MANE Select | ENSP00000423660.1:p.Leu988Met | |
| ENST00000675793.1:c.*2246C>A | ENSP00000502039.1:n.*2246C>A | |
| ENST00000676056.1:c.*2472C>A | ENSP00000501827.1:n.*2472C>A | |
| ENST00000323829.9:c.*2350C>A | ENSP00000313025.5:n.*2350C>A | |
| ENST00000504517.5:c.2492C>A | ENSP00000421779.1:n.2492C>A | |
| ENST00000504690.5:c.2962C>A | ENSP00000425627.1:p.Leu988Met | |
| ENST00000510779.1:c.2012C>A | ||
| ENST00000511307.5:c.*2849C>A | ENSP00000421420.1:n.*2849C>A | |
| ENST00000512049.5:c.2941C>A | ENSP00000421860.1:p.Leu981Met | |
| ENST00000513604.5:c.*2457C>A | ENSP00000423111.1:n.*2457C>A | |
| ENST00000515425.5:c.2962C>A | ENSP00000423660.1:p.Leu988Met | |
| NM_024577.3:c.2962C>A , LRG_269t1:c.2962C>A | NP_078853.2:p.Leu988Met | |
| NM_024577.4:c.2962C>A MANE Select | NP_078853.2:p.Leu988Met |