Linked Data
ClinVar Variation Id:
2415529
ClinVar RCV Id:
RCV003104741
dbSNP Id:
rs772809990
ExAC:
5:149359935 C / T
gnomAD v4:
5-149980372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980372C>T , CM000667.2:g.149980372C>T | GRCh38 |
| NC_000005.9:g.149359935C>T , CM000667.1:g.149359935C>T | GRCh37 |
| NC_000005.8:g.149340128C>T | NCBI36 |
| NG_007147.2:g.21490C>T , LRG_684:g.21490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.779C>T MANE Select | ENSP00000286298.4:p.Ala260Val | |
| ENST00000286298.4:c.779C>T | ENSP00000286298.4:p.Ala260Val | |
| ENST00000503336.1:c.372+2021C>T | ENSP00000426053.1:n.372+2021C>T | |
| NM_000112.3:c.779C>T , LRG_684t1:c.779C>T | NP_000103.2:p.Ala260Val | |
| XM_017009191.2:c.779C>T | XP_016864680.1:p.Ala260Val | |
| NM_000112.4:c.779C>T MANE Select | NP_000103.2:p.Ala260Val |