Linked Data
ClinVar Variation Id:
407269
dbSNP Id:
rs147633804
ExAC:
5:148422269 G / T
gnomAD v2:
5-148422269-G-T
gnomAD v3:
5-149042706-G-T
gnomAD v4:
5-149042706-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149042706G>T , CM000667.2:g.149042706G>T | GRCh38 |
| NC_000005.9:g.148422269G>T , CM000667.1:g.148422269G>T | GRCh37 |
| NC_000005.8:g.148402462G>T | NCBI36 |
| NG_007947.2:g.25469C>A , LRG_269:g.25469C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.465C>A | ||
| ENST00000515425.6:c.517C>A MANE Select | ENSP00000423660.1:p.Leu173Met | |
| ENST00000674983.1:c.517C>A | ENSP00000502387.1:p.Leu173Met | |
| ENST00000675793.1:c.517C>A | ENSP00000502039.1:p.Leu173Met | |
| ENST00000676056.1:c.517C>A | ENSP00000501827.1:p.Leu173Met | |
| ENST00000676367.1:n.133C>A | ||
| ENST00000323829.9:c.517C>A | ENSP00000313025.5:p.Leu173Met | |
| ENST00000503071.1:n.42C>A | ||
| ENST00000504690.5:c.517C>A | ENSP00000425627.1:p.Leu173Met | |
| ENST00000511307.5:c.*297C>A | ENSP00000421420.1:n.*297C>A | |
| ENST00000512049.5:c.496C>A | ENSP00000421860.1:p.Leu166Met | |
| ENST00000513604.5:c.517C>A | ENSP00000423111.1:p.Leu173Met | |
| ENST00000515425.5:c.517C>A | ENSP00000423660.1:p.Leu173Met | |
| NM_024577.3:c.517C>A , LRG_269t1:c.517C>A | NP_078853.2:p.Leu173Met | |
| NM_024577.4:c.517C>A MANE Select | NP_078853.2:p.Leu173Met |